Activity
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| BabyScreen+ newborn screening v0.0 | ALG2 |
Zornitza Stark gene: ALG2 was added gene: ALG2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to Congenital disorder of glycosylation, type Ii |
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| BabyScreen+ newborn screening v0.0 | ALG11 |
Zornitza Stark gene: ALG11 was added gene: ALG11 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation type 1P |
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| BabyScreen+ newborn screening v0.0 | ALDOA |
Zornitza Stark gene: ALDOA was added gene: ALDOA was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to Aldolase A deficiency |
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| BabyScreen+ newborn screening v0.0 | ALDH4A1 |
Zornitza Stark gene: ALDH4A1 was added gene: ALDH4A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II |
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| BabyScreen+ newborn screening v0.0 | ALDH1A2 |
Zornitza Stark gene: ALDH1A2 was added gene: ALDH1A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot |
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| BabyScreen+ newborn screening v0.0 | AKT3 |
Zornitza Stark gene: AKT3 was added gene: AKT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
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| BabyScreen+ newborn screening v0.0 | AKT2 |
Zornitza Stark gene: AKT2 was added gene: AKT2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus |
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| BabyScreen+ newborn screening v0.0 | AKAP9 |
Zornitza Stark gene: AKAP9 was added gene: AKAP9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AKAP9 were set to Long QT syndrome |
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| BabyScreen+ newborn screening v0.0 | AK1 |
Zornitza Stark gene: AK1 was added gene: AK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency |
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| BabyScreen+ newborn screening v0.0 | AHSP |
Zornitza Stark gene: AHSP was added gene: AHSP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHSP were set to Thalassaemia |
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| BabyScreen+ newborn screening v0.0 | AGTR1 |
Zornitza Stark gene: AGTR1 was added gene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | AGT |
Zornitza Stark gene: AGT was added gene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 |
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| BabyScreen+ newborn screening v0.0 | ADAMTS2 |
Zornitza Stark gene: ADAMTS2 was added gene: ADAMTS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc |
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| BabyScreen+ newborn screening v0.0 | ADAM17 |
Zornitza Stark gene: ADAM17 was added gene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease |
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| BabyScreen+ newborn screening v0.0 | ACVR2B |
Zornitza Stark gene: ACVR2B was added gene: ACVR2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACVR2B were set to Left-right axis malformation |
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| BabyScreen+ newborn screening v0.0 | ACTN2 |
Zornitza Stark gene: ACTN2 was added gene: ACTN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | ACTC1 |
Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Atrial septal defect; Cardiomyopathy, familial hypertrophic; Left ventricular noncompaction; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | ACTB |
Zornitza Stark gene: ACTB was added gene: ACTB was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome; Neutrophil dysfunction and recurrent infection |
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| BabyScreen+ newborn screening v0.0 | ACTA1 |
Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA1 were set to Nemaline myopathy; Congenital myopathy with fiber type disproportion |
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| BabyScreen+ newborn screening v0.0 | ACSF3 |
Zornitza Stark gene: ACSF3 was added gene: ACSF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21841779; 30740739 Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria |
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| BabyScreen+ newborn screening v0.0 | ACO2 |
Zornitza Stark gene: ACO2 was added gene: ACO2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile |
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| BabyScreen+ newborn screening v0.0 | ACBD5 |
Zornitza Stark gene: ACBD5 was added gene: ACBD5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACBD5 were set to Thrombocytopaenia |
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| BabyScreen+ newborn screening v0.0 | ACADSB |
Zornitza Stark gene: ACADSB was added gene: ACADSB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency |
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| BabyScreen+ newborn screening v0.0 | ACADS |
Zornitza Stark gene: ACADS was added gene: ACADS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 |
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| BabyScreen+ newborn screening v0.0 | ACADL |
Zornitza Stark gene: ACADL was added gene: ACADL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADL were set to Sudden infant death |
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| BabyScreen+ newborn screening v0.0 | ABCD4 |
Zornitza Stark Source Expert Review Red was added to ABCD4. Source BabySeq Category C gene was added to ABCD4. Added phenotypes Methylmalonic aciduria and homocystinuria, cblJ type for gene: ABCD4 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCC9 were set to Atrial fibrillation, familial; Cardiomyopathy, dilated; Hypertrichotic osteochondrodysplasia |
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| BabyScreen+ newborn screening v0.0 | ABCB7 |
Zornitza Stark gene: ABCB7 was added gene: ABCB7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia |
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| BabyScreen+ newborn screening v0.0 | ABAT |
Zornitza Stark gene: ABAT was added gene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABAT were set to GABA-transaminase deficiency |
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| BabyScreen+ newborn screening v0.0 | AARS2 |
Zornitza Stark gene: AARS2 was added gene: AARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females |
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| BabyScreen+ newborn screening v0.0 | WT1 |
Zornitza Stark gene: WT1 was added gene: WT1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WT1 were set to Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome |
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| BabyScreen+ newborn screening v0.0 | VWF |
Zornitza Stark gene: VWF was added gene: VWF was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VWF were set to von Willebrand disease |
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| BabyScreen+ newborn screening v0.0 | VCL |
Zornitza Stark gene: VCL was added gene: VCL was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCL were set to Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTN were set to Centronuclear myopathy; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | TPM1 |
Zornitza Stark gene: TPM1 was added gene: TPM1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic |
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| BabyScreen+ newborn screening v0.0 | TNNT2 |
Zornitza Stark gene: TNNT2 was added gene: TNNT2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT2 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | TNNI3 |
Zornitza Stark gene: TNNI3 was added gene: TNNI3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI3 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | TNNC1 |
Zornitza Stark gene: TNNC1 was added gene: TNNC1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | TERT |
Zornitza Stark gene: TERT was added gene: TERT was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERT were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | TERC |
Zornitza Stark gene: TERC was added gene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to Dyskeratosis congenita |
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| BabyScreen+ newborn screening v0.0 | SNTA1 |
Zornitza Stark gene: SNTA1 was added gene: SNTA1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SNTA1 were set to Long QT syndrome |
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| BabyScreen+ newborn screening v0.0 | SDHC |
Zornitza Stark gene: SDHC was added gene: SDHC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| BabyScreen+ newborn screening v0.0 | SDHB |
Zornitza Stark gene: SDHB was added gene: SDHB was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| BabyScreen+ newborn screening v0.0 | SDHAF2 |
Zornitza Stark gene: SDHAF2 was added gene: SDHAF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| BabyScreen+ newborn screening v0.0 | SCN5A |
Zornitza Stark Source Expert Review Amber was added to SCN5A. Source BabySeq Category B gene was added to SCN5A. Mode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | RBM20 |
Zornitza Stark gene: RBM20 was added gene: RBM20 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD |
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| BabyScreen+ newborn screening v0.0 | PKP2 |
Zornitza Stark gene: PKP2 was added gene: PKP2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 |
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| BabyScreen+ newborn screening v0.0 | PHOX2B |
Zornitza Stark gene: PHOX2B was added gene: PHOX2B was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome |
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| BabyScreen+ newborn screening v0.0 | PCSK9 |
Zornitza Stark gene: PCSK9 was added gene: PCSK9 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PCSK9 were set to Hypercholesterolemia |
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| BabyScreen+ newborn screening v0.0 | NKX2-5 |
Zornitza Stark gene: NKX2-5 was added gene: NKX2-5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-5 were set to Congenital heart disease |
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| BabyScreen+ newborn screening v0.0 | MYLK |
Zornitza Stark gene: MYLK was added gene: MYLK was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 |
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| BabyScreen+ newborn screening v0.0 | MYL3 |
Zornitza Stark gene: MYL3 was added gene: MYL3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8 |
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| BabyScreen+ newborn screening v0.0 | MYL2 |
Zornitza Stark gene: MYL2 was added gene: MYL2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10 |
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| BabyScreen+ newborn screening v0.0 | MYH11 |
Zornitza Stark gene: MYH11 was added gene: MYH11 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4 |
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| BabyScreen+ newborn screening v0.0 | MTHFR |
Zornitza Stark gene: MTHFR was added gene: MTHFR was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency |
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| BabyScreen+ newborn screening v0.0 | MCCC1 |
Zornitza Stark Source Expert Review Amber was added to MCCC1. Source BabySeq Category B gene was added to MCCC1. Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy |
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| BabyScreen+ newborn screening v0.0 | KRIT1 |
Zornitza Stark gene: KRIT1 was added gene: KRIT1 was added to gNBS. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860 |
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| BabyScreen+ newborn screening v0.0 | KCNQ1 |
Zornitza Stark Source BabySeq Category B gene was added to KCNQ1. Source Expert Review Amber was added to KCNQ1. Source BabySeq Category A gene was added to KCNQ1. Mode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | KCNH2 |
Zornitza Stark gene: KCNH2 was added gene: KCNH2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNH2 were set to Long QT syndrome-2 |
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| BabyScreen+ newborn screening v0.0 | KCNE2 |
Zornitza Stark gene: KCNE2 was added gene: KCNE2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE2 were set to Long QT syndrome-6 |
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| BabyScreen+ newborn screening v0.0 | KCNE1 |
Zornitza Stark gene: KCNE1 was added gene: KCNE1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: KCNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE1 were set to Long QT syndrome-5; Jervell and Lange-Nielsen syndrome |
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| BabyScreen+ newborn screening v0.0 | KCNA5 |
Zornitza Stark gene: KCNA5 was added gene: KCNA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA5 were set to Atrial fibrillation |
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| BabyScreen+ newborn screening v0.0 | JUP |
Zornitza Stark gene: JUP was added gene: JUP was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12; Naxos disease |
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| BabyScreen+ newborn screening v0.0 | GPD1L |
Zornitza Stark gene: GPD1L was added gene: GPD1L was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GPD1L were set to Brugada syndrome |
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| BabyScreen+ newborn screening v0.0 | GJA5 |
Zornitza Stark gene: GJA5 was added gene: GJA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA5 were set to Atrial fibrillation |
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| BabyScreen+ newborn screening v0.0 | GCH1 |
Zornitza Stark Source Expert Review Amber was added to GCH1. Source BabySeq Category B gene was added to GCH1. Mode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia, dopa-responsive for gene: GCH1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | GABRG2 |
Zornitza Stark gene: GABRG2 was added gene: GABRG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category C gene Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG2 were set to 27864268 Phenotypes for gene: GABRG2 were set to Epileptic encephalopathy, early infantile, 74 MIM# 618396; Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Febrile seizures, familial, 8 MIM# 607681 |
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| BabyScreen+ newborn screening v0.0 | DSP |
Zornitza Stark Source BabySeq Category B gene was added to DSP. Source Expert Review Amber was added to DSP. Source BabySeq Category A gene was added to DSP. Mode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | DSG2 |
Zornitza Stark gene: DSG2 was added gene: DSG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy |
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| BabyScreen+ newborn screening v0.0 | DSC2 |
Zornitza Stark gene: DSC2 was added gene: DSC2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy |
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| BabyScreen+ newborn screening v0.0 | DMD |
Zornitza Stark Source BabySeq Category B gene was added to DMD. Source Expert Review Amber was added to DMD. Source BabySeq Category A gene was added to DMD. Added phenotypes Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy, dilated for gene: DMD Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | DKC1 |
Zornitza Stark Source Expert Review Amber was added to DKC1. Source BabySeq Category B gene was added to DKC1. Added phenotypes Dyskeratosis congenita for gene: DKC1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | DES |
Zornitza Stark gene: DES was added gene: DES was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DES were set to Myopathy, myofibrillar; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | CRYAB |
Zornitza Stark gene: CRYAB was added gene: CRYAB was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYAB were set to Myofibrillar myopathy; Cardiomyopathy, dilated |
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| BabyScreen+ newborn screening v0.0 | CP |
Zornitza Stark gene: CP was added gene: CP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Aceruloplasminaemia |
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| BabyScreen+ newborn screening v0.0 | CDKN2A |
Zornitza Stark gene: CDKN2A was added gene: CDKN2A was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN2A were set to Melanoma |
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| BabyScreen+ newborn screening v0.0 | CACNA1C |
Zornitza Stark Source Expert Review Amber was added to CACNA1C. Source BabySeq Category B gene was added to CACNA1C. Added phenotypes Brugada syndrome for gene: CACNA1C Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| BabyScreen+ newborn screening v0.0 | BMPR2 |
Zornitza Stark gene: BMPR2 was added gene: BMPR2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary |
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| BabyScreen+ newborn screening v0.0 | AIP |
Zornitza Stark gene: AIP was added gene: AIP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AIP were set to Pituitary adenoma |
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| BabyScreen+ newborn screening v0.0 | ACTA2 |
Zornitza Stark gene: ACTA2 was added gene: ACTA2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic |
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| BabyScreen+ newborn screening v0.0 | ZNF469 |
Zornitza Stark gene: ZNF469 was added gene: ZNF469 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome |
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| BabyScreen+ newborn screening v0.0 | ZMPSTE24 |
Zornitza Stark gene: ZMPSTE24 was added gene: ZMPSTE24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy |
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| BabyScreen+ newborn screening v0.0 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to Heterotaxy |
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| BabyScreen+ newborn screening v0.0 | ZIC2 |
Zornitza Stark gene: ZIC2 was added gene: ZIC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZIC2 were set to Holoprosencephaly-5 |
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| BabyScreen+ newborn screening v0.0 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome |
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| BabyScreen+ newborn screening v0.0 | ZAP70 |
Zornitza Stark gene: ZAP70 was added gene: ZAP70 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency |
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| BabyScreen+ newborn screening v0.0 | XPC |
Zornitza Stark gene: XPC was added gene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum |
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| BabyScreen+ newborn screening v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to Xeroderma pigmentosum |
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| BabyScreen+ newborn screening v0.0 | XIAP |
Zornitza Stark gene: XIAP was added gene: XIAP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 |
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| BabyScreen+ newborn screening v0.0 | WRN |
Zornitza Stark gene: WRN was added gene: WRN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome |
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| BabyScreen+ newborn screening v0.0 | WRAP53 |
Zornitza Stark gene: WRAP53 was added gene: WRAP53 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 32303682; 21205863; 29514627 Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 |
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| BabyScreen+ newborn screening v0.0 | WHRN |
Zornitza Stark gene: WHRN was added gene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658 Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084 |
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| BabyScreen+ newborn screening v0.0 | WFS1 |
Zornitza Stark gene: WFS1 was added gene: WFS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WFS1 were set to Wolfram syndrome |
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| BabyScreen+ newborn screening v0.0 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
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| BabyScreen+ newborn screening v0.0 | WAS |
Zornitza Stark gene: WAS was added gene: WAS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: WAS were set to Neutropenia, severe congenital, X-linked , MIM#300299; Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000 |
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| BabyScreen+ newborn screening v0.0 | VPS45 |
Zornitza Stark gene: VPS45 was added gene: VPS45 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 |
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| BabyScreen+ newborn screening v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome |
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| BabyScreen+ newborn screening v0.0 | VPS13B |
Zornitza Stark gene: VPS13B was added gene: VPS13B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to Cohen syndrome |
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| BabyScreen+ newborn screening v0.0 | VPS13A |
Zornitza Stark gene: VPS13A was added gene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis |
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| BabyScreen+ newborn screening v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
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| BabyScreen+ newborn screening v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis |
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| BabyScreen+ newborn screening v0.0 | VHL |
Zornitza Stark gene: VHL was added gene: VHL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome |
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| BabyScreen+ newborn screening v0.0 | VDR |
Zornitza Stark gene: VDR was added gene: VDR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to Vitamin D-dependent rickets |
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| BabyScreen+ newborn screening v0.0 | VCP |
Zornitza Stark gene: VCP was added gene: VCP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia |
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| BabyScreen+ newborn screening v0.0 | VCAN |
Zornitza Stark gene: VCAN was added gene: VCAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCAN were set to Wagner syndrome |
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| BabyScreen+ newborn screening v0.0 | VAMP1 |
Zornitza Stark gene: VAMP1 was added gene: VAMP1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323 |
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| BabyScreen+ newborn screening v0.0 | USH2A |
Zornitza Stark gene: USH2A was added gene: USH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH2A were set to Usher syndrome 2 |
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| BabyScreen+ newborn screening v0.0 | USH1G |
Zornitza Stark gene: USH1G was added gene: USH1G was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH1G were set to Usher syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | USH1C |
Zornitza Stark gene: USH1C was added gene: USH1C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USH1C were set to Usher syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic |
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| BabyScreen+ newborn screening v0.0 | UROD |
Zornitza Stark gene: UROD was added gene: UROD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic |
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| BabyScreen+ newborn screening v0.0 | UNC13D |
Zornitza Stark gene: UNC13D was added gene: UNC13D was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were set to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 |
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| BabyScreen+ newborn screening v0.0 | UMOD |
Zornitza Stark gene: UMOD was added gene: UMOD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UMOD were set to Nephropathy |
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| BabyScreen+ newborn screening v0.0 | UGT1A1 |
Zornitza Stark gene: UGT1A1 was added gene: UGT1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome |
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| BabyScreen+ newborn screening v0.0 | UCP2 |
Zornitza Stark gene: UCP2 was added gene: UCP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UCP2 were set to Hyperinsulinism, ORPHA:276556 |
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| BabyScreen+ newborn screening v0.0 | UBR1 |
Zornitza Stark gene: UBR1 was added gene: UBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome |
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| BabyScreen+ newborn screening v0.0 | UBE2T |
Zornitza Stark gene: UBE2T was added gene: UBE2T was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE2T were set to Fanconi anaemia, complementation group T, MIM# 616435 |
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| BabyScreen+ newborn screening v0.0 | TYR |
Zornitza Stark gene: TYR was added gene: TYR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous 1 |
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| BabyScreen+ newborn screening v0.0 | TYMP |
Zornitza Stark gene: TYMP was added gene: TYMP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome |
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| BabyScreen+ newborn screening v0.0 | TWNK |
Zornitza Stark gene: TWNK was added gene: TWNK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset |
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| BabyScreen+ newborn screening v0.0 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome |
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| BabyScreen+ newborn screening v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related |
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| BabyScreen+ newborn screening v0.0 | TTPA |
Zornitza Stark gene: TTPA was added gene: TTPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency |
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| BabyScreen+ newborn screening v0.0 | TTC7A |
Zornitza Stark gene: TTC7A was added gene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias, MIM#243150 |
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| BabyScreen+ newborn screening v0.0 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome |
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| BabyScreen+ newborn screening v0.0 | TTC21B |
Zornitza Stark gene: TTC21B was added gene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341 Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820 |
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| BabyScreen+ newborn screening v0.0 | TSR2 |
Zornitza Stark gene: TSR2 was added gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946 |
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| BabyScreen+ newborn screening v0.0 | TSHR |
Zornitza Stark gene: TSHR was added gene: TSHR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHR were set to Hypothyroidism |
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| BabyScreen+ newborn screening v0.0 | TSHB |
Zornitza Stark gene: TSHB was added gene: TSHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4 |
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| BabyScreen+ newborn screening v0.0 | TSEN54 |
Zornitza Stark gene: TSEN54 was added gene: TSEN54 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4 |
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| BabyScreen+ newborn screening v0.0 | TSC2 |
Zornitza Stark gene: TSC2 was added gene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis 2, MIM#613254 |
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| BabyScreen+ newborn screening v0.0 | TSC1 |
Zornitza Stark gene: TSC1 was added gene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC1 were set to Tuberous sclerosis 1, MIM#191100 |
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| BabyScreen+ newborn screening v0.0 | TRPM4 |
Zornitza Stark gene: TRPM4 was added gene: TRPM4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPM4 were set to Cardiac conduction disease |
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| BabyScreen+ newborn screening v0.0 | TRMU |
Zornitza Stark gene: TRMU was added gene: TRMU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMU were set to Liver failure, transient infantile |
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| BabyScreen+ newborn screening v0.0 | TRIOBP |
Zornitza Stark gene: TRIOBP was added gene: TRIOBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIOBP were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TRIM37 |
Zornitza Stark gene: TRIM37 was added gene: TRIM37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to Mulibrey nanism syndrome |
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| BabyScreen+ newborn screening v0.0 | TRIM32 |
Zornitza Stark gene: TRIM32 was added gene: TRIM32 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H |
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| BabyScreen+ newborn screening v0.0 | TREX1 |
Zornitza Stark gene: TREX1 was added gene: TREX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | TRAPPC2 |
Zornitza Stark gene: TRAPPC2 was added gene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda |
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| BabyScreen+ newborn screening v0.0 | TPP1 |
Zornitza Stark gene: TPP1 was added gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis |
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| BabyScreen+ newborn screening v0.0 | TPO |
Zornitza Stark gene: TPO was added gene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A |
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| BabyScreen+ newborn screening v0.0 | TPM3 |
Zornitza Stark gene: TPM3 was added gene: TPM3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM3 were set to Nemaline myopathy; Congenital fiber-type disproportion myopathy |
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| BabyScreen+ newborn screening v0.0 | TPM2 |
Zornitza Stark gene: TPM2 was added gene: TPM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM2 were set to Nemaline myopathy; Arthrogryposis multiplex congenita, distal |
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| BabyScreen+ newborn screening v0.0 | TP53 |
Zornitza Stark gene: TP53 was added gene: TP53 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome |
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| BabyScreen+ newborn screening v0.0 | TNNT3 |
Zornitza Stark gene: TNNT3 was added gene: TNNT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal |
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| BabyScreen+ newborn screening v0.0 | TNNT1 |
Zornitza Stark gene: TNNT1 was added gene: TNNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type |
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| BabyScreen+ newborn screening v0.0 | TNNI2 |
Zornitza Stark gene: TNNI2 was added gene: TNNI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b |
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| BabyScreen+ newborn screening v0.0 | TNFSF11 |
Zornitza Stark gene: TNFSF11 was added gene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 |
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| BabyScreen+ newborn screening v0.0 | TNFRSF11B |
Zornitza Stark gene: TNFRSF11B was added gene: TNFRSF11B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease |
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| BabyScreen+ newborn screening v0.0 | TNFRSF11A |
Zornitza Stark gene: TNFRSF11A was added gene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301 |
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| BabyScreen+ newborn screening v0.0 | TMPRSS3 |
Zornitza Stark gene: TMPRSS3 was added gene: TMPRSS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TMIE |
Zornitza Stark gene: TMIE was added gene: TMIE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMIE were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TMEM67 |
Zornitza Stark gene: TMEM67 was added gene: TMEM67 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to Joubert syndrome; Meckel syndrome |
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| BabyScreen+ newborn screening v0.0 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 |
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| BabyScreen+ newborn screening v0.0 | TMC1 |
Zornitza Stark gene: TMC1 was added gene: TMC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC1 were set to Deafness |
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| BabyScreen+ newborn screening v0.0 | TK2 |
Zornitza Stark gene: TK2 was added gene: TK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome |
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| BabyScreen+ newborn screening v0.0 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome |
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| BabyScreen+ newborn screening v0.0 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRB were set to Thyroid hormone resistance |
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| BabyScreen+ newborn screening v0.0 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6 |
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| BabyScreen+ newborn screening v0.0 | TH |
Zornitza Stark gene: TH was added gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407 |
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| BabyScreen+ newborn screening v0.0 | TGM5 |
Zornitza Stark gene: TGM5 was added gene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type |
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| BabyScreen+ newborn screening v0.0 | TGM1 |
Zornitza Stark gene: TGM1 was added gene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | TGFBR2 |
Zornitza Stark gene: TGFBR2 was added gene: TGFBR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome |
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| BabyScreen+ newborn screening v0.0 | TGFBR1 |
Zornitza Stark gene: TGFBR1 was added gene: TGFBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome |
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| BabyScreen+ newborn screening v0.0 | TG |
Zornitza Stark gene: TG was added gene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 |
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| BabyScreen+ newborn screening v0.0 | TFG |
Zornitza Stark gene: TFG was added gene: TFG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy |
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| BabyScreen+ newborn screening v0.0 | TFAP2B |
Zornitza Stark gene: TFAP2B was added gene: TFAP2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFAP2B were set to Char syndrome |
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| BabyScreen+ newborn screening v0.0 | TFAP2A |
Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome |
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| BabyScreen+ newborn screening v0.0 | TECTA |
Zornitza Stark gene: TECTA was added gene: TECTA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECTA were set to Deafness |
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| BabyScreen+ newborn screening v0.0 | TCOF1 |
Zornitza Stark gene: TCOF1 was added gene: TCOF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | TCIRG1 |
Zornitza Stark gene: TCIRG1 was added gene: TCIRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant |
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| BabyScreen+ newborn screening v0.0 | TCN2 |
Zornitza Stark gene: TCN2 was added gene: TCN2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 |
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| BabyScreen+ newborn screening v0.0 | TCF3 |
Zornitza Stark gene: TCF3 was added gene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 |
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| BabyScreen+ newborn screening v0.0 | TBX19 |
Zornitza Stark gene: TBX19 was added gene: TBX19 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, MIM#201400 |
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| BabyScreen+ newborn screening v0.0 | TBX5 |
Zornitza Stark gene: TBX5 was added gene: TBX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TBX5 were set to Holt-Oram syndrome |
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| BabyScreen+ newborn screening v0.0 | TBX1 |
Zornitza Stark gene: TBX1 was added gene: TBX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TBX1 were set to DiGeorge syndrome |
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| BabyScreen+ newborn screening v0.0 | TBC1D24 |
Zornitza Stark gene: TBC1D24 was added gene: TBC1D24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome |
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| BabyScreen+ newborn screening v0.0 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060 |
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| BabyScreen+ newborn screening v0.0 | TAT |
Zornitza Stark gene: TAT was added gene: TAT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#276600 |
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| BabyScreen+ newborn screening v0.0 | SURF1 |
Zornitza Stark gene: SURF1 was added gene: SURF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency |
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| BabyScreen+ newborn screening v0.0 | SUOX |
Zornitza Stark gene: SUOX was added gene: SUOX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUOX were set to Sulphite oxidase deficiency |
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| BabyScreen+ newborn screening v0.0 | SUCLG1 |
Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
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| BabyScreen+ newborn screening v0.0 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) |
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| BabyScreen+ newborn screening v0.0 | STXBP2 |
Zornitza Stark gene: STXBP2 was added gene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101 |
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| BabyScreen+ newborn screening v0.0 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile |
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| BabyScreen+ newborn screening v0.0 | STX11 |
Zornitza Stark gene: STX11 was added gene: STX11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 |
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| BabyScreen+ newborn screening v0.0 | STS |
Zornitza Stark gene: STS was added gene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to Ichthyosis, X-linked |
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| BabyScreen+ newborn screening v0.0 | STRC |
Zornitza Stark gene: STRC was added gene: STRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRC were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic |
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| BabyScreen+ newborn screening v0.0 | STK11 |
Zornitza Stark gene: STK11 was added gene: STK11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome |
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| BabyScreen+ newborn screening v0.0 | STAT3 |
Zornitza Stark gene: STAT3 was added gene: STAT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome |
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| BabyScreen+ newborn screening v0.0 | STAR |
Zornitza Stark gene: STAR was added gene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710 |
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| BabyScreen+ newborn screening v0.0 | STAC3 |
Zornitza Stark gene: STAC3 was added gene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995 |
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| BabyScreen+ newborn screening v0.0 | SRP54 |
Zornitza Stark gene: SRP54 was added gene: SRP54 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 |
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| BabyScreen+ newborn screening v0.0 | SRCAP |
Zornitza Stark gene: SRCAP was added gene: SRCAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome |
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| BabyScreen+ newborn screening v0.0 | SPTLC1 |
Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA |
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| BabyScreen+ newborn screening v0.0 | SPTB |
Zornitza Stark gene: SPTB was added gene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTB were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | SPTA1 |
Zornitza Stark gene: SPTA1 was added gene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTA1 were set to Elliptocytosis |
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| BabyScreen+ newborn screening v0.0 | SPRED1 |
Zornitza Stark gene: SPRED1 was added gene: SPRED1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPRED1 were set to Legius syndrome |
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| BabyScreen+ newborn screening v0.0 | SPR |
Zornitza Stark gene: SPR was added gene: SPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to Sepiapterin reductase deficiency |
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| BabyScreen+ newborn screening v0.0 | SPINK5 |
Zornitza Stark gene: SPINK5 was added gene: SPINK5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome |
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| BabyScreen+ newborn screening v0.0 | SPEG |
Zornitza Stark gene: SPEG was added gene: SPEG was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 26578207; 25087613; 30157964; 29614691; 28624463; 30412272; 31625632; 29474540 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959 |
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| BabyScreen+ newborn screening v0.0 | SP110 |
Zornitza Stark gene: SP110 was added gene: SP110 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency |
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| BabyScreen+ newborn screening v0.0 | SOX9 |
Zornitza Stark gene: SOX9 was added gene: SOX9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX9 were set to Campomelic dysplasia |
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| BabyScreen+ newborn screening v0.0 | SOX10 |
Zornitza Stark gene: SOX10 was added gene: SOX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome |
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| BabyScreen+ newborn screening v0.0 | SNAP25 |
Zornitza Stark gene: SNAP25 was added gene: SNAP25 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, MIM# 616330 |
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| BabyScreen+ newborn screening v0.0 | SMPX |
Zornitza Stark gene: SMPX was added gene: SMPX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMPX were set to Deafness, X-linked |
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| BabyScreen+ newborn screening v0.0 | SMPD1 |
Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type B; Niemann-Pick disease, type A |
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| BabyScreen+ newborn screening v0.0 | SMN1 |
Zornitza Stark gene: SMN1 was added gene: SMN1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 |
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| BabyScreen+ newborn screening v0.0 | SMC1A |
Zornitza Stark gene: SMC1A was added gene: SMC1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMC1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome |
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| BabyScreen+ newborn screening v0.0 | SMARCAL1 |
Zornitza Stark gene: SMARCAL1 was added gene: SMARCAL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia |
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| BabyScreen+ newborn screening v0.0 | SMAD4 |
Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD4 were set to Juvenile polyposis syndrome |
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| BabyScreen+ newborn screening v0.0 | SMAD3 |
Zornitza Stark gene: SMAD3 was added gene: SMAD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome |
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| BabyScreen+ newborn screening v0.0 | SLX4 |
Zornitza Stark gene: SLX4 was added gene: SLX4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi anaemia, complementation group P, MIM# 613951 |
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| BabyScreen+ newborn screening v0.0 | SLCO2A1 |
Zornitza Stark gene: SLCO2A1 was added gene: SLCO2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLCO2A1 were set to 22331663; 27134495; 33852188; 23509104 Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100 |
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| BabyScreen+ newborn screening v0.0 | SLC9A6 |
Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to Christianson syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC7A9 |
Zornitza Stark gene: SLC7A9 was added gene: SLC7A9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A9 were set to Cystinuria |
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| BabyScreen+ newborn screening v0.0 | SLC7A7 |
Zornitza Stark gene: SLC7A7 was added gene: SLC7A7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance |
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| BabyScreen+ newborn screening v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to Creatine deficiency syndrome, X-linked |
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| BabyScreen+ newborn screening v0.0 | SLC6A5 |
Zornitza Stark gene: SLC6A5 was added gene: SLC6A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618 |
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| BabyScreen+ newborn screening v0.0 | SLC6A19 |
Zornitza Stark gene: SLC6A19 was added gene: SLC6A19 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM # 234500 |
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| BabyScreen+ newborn screening v0.0 | SLC52A3 |
Zornitza Stark gene: SLC52A3 was added gene: SLC52A3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500 |
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| BabyScreen+ newborn screening v0.0 | SLC52A2 |
Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 |
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| BabyScreen+ newborn screening v0.0 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 |
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| BabyScreen+ newborn screening v0.0 | SLC5A2 |
Zornitza Stark gene: SLC5A2 was added gene: SLC5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC5A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A2 were set to Renal glucosuria |
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| BabyScreen+ newborn screening v0.0 | SLC5A1 |
Zornitza Stark gene: SLC5A1 was added gene: SLC5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption, MIM# 606824 |
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| BabyScreen+ newborn screening v0.0 | SLC4A11 |
Zornitza Stark gene: SLC4A11 was added gene: SLC4A11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy |
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| BabyScreen+ newborn screening v0.0 | SLC4A1 |
Zornitza Stark gene: SLC4A1 was added gene: SLC4A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC4A1 were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | SLC46A1 |
Zornitza Stark gene: SLC46A1 was added gene: SLC46A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# |
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| BabyScreen+ newborn screening v0.0 | SLC45A2 |
Zornitza Stark gene: SLC45A2 was added gene: SLC45A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism, type IV |
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| BabyScreen+ newborn screening v0.0 | SLC3A1 |
Zornitza Stark gene: SLC3A1 was added gene: SLC3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Cystinuria |
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| BabyScreen+ newborn screening v0.0 | SLC39A8 |
Zornitza Stark gene: SLC39A8 was added gene: SLC39A8 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn , MIM#16721 |
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| BabyScreen+ newborn screening v0.0 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica |
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| BabyScreen+ newborn screening v0.0 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, MIM#232220 |
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| BabyScreen+ newborn screening v0.0 | SLC35D1 |
Zornitza Stark gene: SLC35D1 was added gene: SLC35D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia |
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| BabyScreen+ newborn screening v0.0 | SLC34A3 |
Zornitza Stark gene: SLC34A3 was added gene: SLC34A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria |
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| BabyScreen+ newborn screening v0.0 | SLC34A2 |
Zornitza Stark gene: SLC34A2 was added gene: SLC34A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis |
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| BabyScreen+ newborn screening v0.0 | SLC2A10 |
Zornitza Stark gene: SLC2A10 was added gene: SLC2A10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC2A1 |
Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 2, childhood onset, 612126; {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 |
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| BabyScreen+ newborn screening v0.0 | SLC27A4 |
Zornitza Stark gene: SLC27A4 was added gene: SLC27A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC26A4 |
Zornitza Stark gene: SLC26A4 was added gene: SLC26A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A4 were set to Pendred syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC26A3 |
Zornitza Stark gene: SLC26A3 was added gene: SLC26A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type |
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| BabyScreen+ newborn screening v0.0 | SLC26A2 |
Zornitza Stark gene: SLC26A2 was added gene: SLC26A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to Achondrogenesis 1B |
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| BabyScreen+ newborn screening v0.0 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia |
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| BabyScreen+ newborn screening v0.0 | SLC25A38 |
Zornitza Stark gene: SLC25A38 was added gene: SLC25A38 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | SLC25A20 |
Zornitza Stark gene: SLC25A20 was added gene: SLC25A20 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, MIM#212138 |
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| BabyScreen+ newborn screening v0.0 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 |
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| BabyScreen+ newborn screening v0.0 | SLC25A13 |
Zornitza Stark gene: SLC25A13 was added gene: SLC25A13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A13 were set to Citrullinemia, MIM#605814 |
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| BabyScreen+ newborn screening v0.0 | SLC25A1 |
Zornitza Stark gene: SLC25A1 was added gene: SLC25A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 |
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| BabyScreen+ newborn screening v0.0 | SLC22A5 |
Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM#212140 |
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| BabyScreen+ newborn screening v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to Basal ganglia disease, biotin-responsive, MIM#607483 |
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| BabyScreen+ newborn screening v0.0 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC18A3 |
Zornitza Stark gene: SLC18A3 was added gene: SLC18A3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239 |
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| BabyScreen+ newborn screening v0.0 | SLC18A2 |
Zornitza Stark gene: SLC18A2 was added gene: SLC18A2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049 |
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| BabyScreen+ newborn screening v0.0 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile |
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| BabyScreen+ newborn screening v0.0 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC16A1 |
Zornitza Stark gene: SLC16A1 was added gene: SLC16A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A1 were set to Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021 |
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| BabyScreen+ newborn screening v0.0 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy |
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| BabyScreen+ newborn screening v0.0 | SLC12A3 |
Zornitza Stark gene: SLC12A3 was added gene: SLC12A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Gitelman syndrome |
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| BabyScreen+ newborn screening v0.0 | SLC12A1 |
Zornitza Stark gene: SLC12A1 was added gene: SLC12A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A1 were set to Bartter syndrome |
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| BabyScreen+ newborn screening v0.0 | SKI |
Zornitza Stark gene: SKI was added gene: SKI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome |
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| BabyScreen+ newborn screening v0.0 | SIX3 |
Zornitza Stark gene: SIX3 was added gene: SIX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX3 were set to Holoprosencephaly-2 |
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| BabyScreen+ newborn screening v0.0 | SIX1 |
Zornitza Stark gene: SIX1 was added gene: SIX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SIX1 were set to Branchiootorenal syndrome |
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| BabyScreen+ newborn screening v0.0 | SIL1 |
Zornitza Stark gene: SIL1 was added gene: SIL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome |
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| BabyScreen+ newborn screening v0.0 | SI |
Zornitza Stark gene: SI was added gene: SI was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900 |
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| BabyScreen+ newborn screening v0.0 | SHH |
Zornitza Stark gene: SHH was added gene: SHH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHH were set to Holoprosencephaly-3 |
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| BabyScreen+ newborn screening v0.0 | SHANK3 |
Zornitza Stark gene: SHANK3 was added gene: SHANK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHANK3 were set to 17173049; 30842224; 16284256; 20186804; 22892527 Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652 |
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| BabyScreen+ newborn screening v0.0 | SH3TC2 |
Zornitza Stark gene: SH3TC2 was added gene: SH3TC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | SH2D1A |
Zornitza Stark gene: SH2D1A was added gene: SH2D1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, MIM#308240 |
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| BabyScreen+ newborn screening v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A) |
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| BabyScreen+ newborn screening v0.0 | SGCG |
Zornitza Stark gene: SGCG was added gene: SGCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C |
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| BabyScreen+ newborn screening v0.0 | SGCD |
Zornitza Stark gene: SGCD was added gene: SGCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 |
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| BabyScreen+ newborn screening v0.0 | SGCB |
Zornitza Stark gene: SGCB was added gene: SGCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E |
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| BabyScreen+ newborn screening v0.0 | SGCA |
Zornitza Stark gene: SGCA was added gene: SGCA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D |
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| BabyScreen+ newborn screening v0.0 | SFTPC |
Zornitza Stark gene: SFTPC was added gene: SFTPC was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPC were set to Interstitial lung disease; Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620 |
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| BabyScreen+ newborn screening v0.0 | SFTPB |
Zornitza Stark gene: SFTPB was added gene: SFTPB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary |
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| BabyScreen+ newborn screening v0.0 | SETX |
Zornitza Stark gene: SETX was added gene: SETX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SETX were set to Ataxia-ocular apraxia 2 |
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| BabyScreen+ newborn screening v0.0 | SETBP1 |
Zornitza Stark gene: SETBP1 was added gene: SETBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SETBP1 were set to Schinzel-Giedion syndrome |
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| BabyScreen+ newborn screening v0.0 | SERPINA1 |
Zornitza Stark gene: SERPINA1 was added gene: SERPINA1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINA1 were set to Emphysema due to AAT deficiency, OMIM #107400; Antitrypsin alpha 1 deficiency |
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| BabyScreen+ newborn screening v0.0 | SELENON |
Zornitza Stark gene: SELENON was added gene: SELENON was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine; Myopathy, congenital, with fiber-type disproportion |
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| BabyScreen+ newborn screening v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes |
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| BabyScreen+ newborn screening v0.0 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
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| BabyScreen+ newborn screening v0.0 | SCNN1G |
Zornitza Stark gene: SCNN1G was added gene: SCNN1G was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350 |
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| BabyScreen+ newborn screening v0.0 | SCNN1B |
Zornitza Stark gene: SCNN1B was added gene: SCNN1B was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I MIM# 264350 |
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| BabyScreen+ newborn screening v0.0 | SCNN1A |
Zornitza Stark gene: SCNN1A was added gene: SCNN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, MIM#264350 |
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| BabyScreen+ newborn screening v0.0 | SCN8A |
Zornitza Stark gene: SCN8A was added gene: SCN8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN8A were set to Developmental and epileptic encephalopathy 13, MIM#614558 |
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| BabyScreen+ newborn screening v0.0 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN5A were set to Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Long QT syndrome 3 (MIM#603830); Heart block, progressive, type IA, MIM# 113900 |
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| BabyScreen+ newborn screening v0.0 | SCN4A |
Zornitza Stark gene: SCN4A was added gene: SCN4A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Paramyotonia congenita , MIM#168300; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345 |
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| BabyScreen+ newborn screening v0.0 | SCN3A |
Zornitza Stark gene: SCN3A was added gene: SCN3A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN3A were set to Developmental and epileptic encephalopathy 62, MIM# 617938 |
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| BabyScreen+ newborn screening v0.0 | SCN2A |
Zornitza Stark gene: SCN2A was added gene: SCN2A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721 |
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| BabyScreen+ newborn screening v0.0 | SCN1A |
Zornitza Stark gene: SCN1A was added gene: SCN1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN1A were set to Dravet syndrome, MIM#604403; Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317 |
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| BabyScreen+ newborn screening v0.0 | SCN11A |
Zornitza Stark gene: SCN11A was added gene: SCN11A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN11A were set to Episodic pain syndrome |
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| BabyScreen+ newborn screening v0.0 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome |
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| BabyScreen+ newborn screening v0.0 | SAMHD1 |
Zornitza Stark gene: SAMHD1 was added gene: SAMHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome |
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| BabyScreen+ newborn screening v0.0 | SALL1 |
Zornitza Stark gene: SALL1 was added gene: SALL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome |
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| BabyScreen+ newborn screening v0.0 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type |
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| BabyScreen+ newborn screening v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic |
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| BabyScreen+ newborn screening v0.0 | RYR1 |
Zornitza Stark gene: RYR1 was added gene: RYR1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,BabySeq Category B gene,BabySeq Category C gene,Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to Malignant hyperthermia, multiminicore disease MIM#180901 |
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| BabyScreen+ newborn screening v0.0 | RUNX2 |
Zornitza Stark gene: RUNX2 was added gene: RUNX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RUNX2 were set to Cleidocranial dysostosis |
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| BabyScreen+ newborn screening v0.0 | RSPH9 |
Zornitza Stark gene: RSPH9 was added gene: RSPH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | RSPH4A |
Zornitza Stark gene: RSPH4A was added gene: RSPH4A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary |
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| BabyScreen+ newborn screening v0.0 | RS1 |
Zornitza Stark gene: RS1 was added gene: RS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RS1 were set to Retinoschisis, X linked |
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| BabyScreen+ newborn screening v0.0 | RRM2B |
Zornitza Stark gene: RRM2B was added gene: RRM2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome |
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| BabyScreen+ newborn screening v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome |
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| BabyScreen+ newborn screening v0.0 | RPS7 |
Zornitza Stark gene: RPS7 was added gene: RPS7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS7 were set to Diamond-Blackfan anaemia 8, MIM# 612563 |
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| BabyScreen+ newborn screening v0.0 | RPS29 |
Zornitza Stark gene: RPS29 was added gene: RPS29 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS29 were set to Diamond-Blackfan anaemia 13, MIM# 615909 |
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| BabyScreen+ newborn screening v0.0 | RPS28 |
Zornitza Stark gene: RPS28 was added gene: RPS28 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS28 were set to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 |
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| BabyScreen+ newborn screening v0.0 | RPS27 |
Zornitza Stark gene: RPS27 was added gene: RPS27 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS27 were set to Diamond-Blackfan anaemia 17, MIM# 617409 |
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| BabyScreen+ newborn screening v0.0 | RPS26 |
Zornitza Stark gene: RPS26 was added gene: RPS26 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS26 were set to Diamond-Blackfan anaemia, MM#613309 |
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| BabyScreen+ newborn screening v0.0 | RPS24 |
Zornitza Stark gene: RPS24 was added gene: RPS24 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS24 were set to Diamond-Blackfan anaemia, MIM#610629 |
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| BabyScreen+ newborn screening v0.0 | RPS19 |
Zornitza Stark gene: RPS19 was added gene: RPS19 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS19 were set to Diamond-Blackfan anaemia, MIM#105650 |
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| BabyScreen+ newborn screening v0.0 | RPS17 |
Zornitza Stark gene: RPS17 was added gene: RPS17 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia, MIM#612527 |
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| BabyScreen+ newborn screening v0.0 | RPS15A |
Zornitza Stark gene: RPS15A was added gene: RPS15A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS15A were set to Diamond-Blackfan anaemia 20, MIM# 618313 |
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| BabyScreen+ newborn screening v0.0 | RPS15 |
Zornitza Stark gene: RPS15 was added gene: RPS15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS15 were set to Diamond-Blackfan anemia |
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| BabyScreen+ newborn screening v0.0 | RPS10 |
Zornitza Stark gene: RPS10 was added gene: RPS10 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308 |
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| BabyScreen+ newborn screening v0.0 | RPL5 |
Zornitza Stark gene: RPL5 was added gene: RPL5 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL5 were set to Diamond-Blackfan anaemia, MIM#612561 |
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| BabyScreen+ newborn screening v0.0 | RPL35A |
Zornitza Stark gene: RPL35A was added gene: RPL35A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL35A were set to Diamond-Blackfan anaemia 5, MIM# 612528 |
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| BabyScreen+ newborn screening v0.0 | RPL35 |
Zornitza Stark gene: RPL35 was added gene: RPL35 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL35 were set to Diamond-Blackfan anaemia 19 , MIM# 618312 |
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| BabyScreen+ newborn screening v0.0 | RPL27 |
Zornitza Stark gene: RPL27 was added gene: RPL27 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL27 were set to Diamond-Blackfan anaemia 16 , MIM# 617408 |
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| BabyScreen+ newborn screening v0.0 | RPL26 |
Zornitza Stark gene: RPL26 was added gene: RPL26 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11 , MIM# 614900 |
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| BabyScreen+ newborn screening v0.0 | RPL18 |
Zornitza Stark gene: RPL18 was added gene: RPL18 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL18 were set to Diamond-Blackfan anaemia 18 , MIM# 618310 |
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| BabyScreen+ newborn screening v0.0 | RPL15 |
Zornitza Stark gene: RPL15 was added gene: RPL15 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL15 were set to Diamond-Blackfan anaemia 12 , MIM# 615550 |
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| BabyScreen+ newborn screening v0.0 | RPL11 |
Zornitza Stark gene: RPL11 was added gene: RPL11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL11 were set to Diamond-Blackfan anaemia, MIM#612562 |
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| BabyScreen+ newborn screening v0.0 | RPGRIP1L |
Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Joubert syndrome; Meckel syndrome |
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| BabyScreen+ newborn screening v0.0 | RPGR |
Zornitza Stark gene: RPGR was added gene: RPGR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPGR were set to Retinitis pigmentosa |
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| BabyScreen+ newborn screening v0.0 | ROR2 |
Zornitza Stark gene: ROR2 was added gene: ROR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ROR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ROR2 were set to Robinow syndrome; Brachydactyly, type B1 |
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| BabyScreen+ newborn screening v0.0 | RNASEH2C |
Zornitza Stark gene: RNASEH2C was added gene: RNASEH2C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome |
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| BabyScreen+ newborn screening v0.0 | RNASEH2B |
Zornitza Stark gene: RNASEH2B was added gene: RNASEH2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome |
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| BabyScreen+ newborn screening v0.0 | RNASEH2A |
Zornitza Stark gene: RNASEH2A was added gene: RNASEH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome |
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| BabyScreen+ newborn screening v0.0 | RMRP |
Zornitza Stark gene: RMRP was added gene: RMRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia |
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| BabyScreen+ newborn screening v0.0 | RFXANK |
Zornitza Stark gene: RFXANK was added gene: RFXANK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B , MIM#209920 |
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| BabyScreen+ newborn screening v0.0 | RFWD3 |
Zornitza Stark gene: RFWD3 was added gene: RFWD3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFWD3 were set to Fanconi anaemia, complementation group W, MIM# 617784 |
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| BabyScreen+ newborn screening v0.0 | RETREG1 |
Zornitza Stark gene: RETREG1 was added gene: RETREG1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RETREG1 were set to 31737055; 31596031; 24327336; 19838196 Phenotypes for gene: RETREG1 were set to MONDO:0013142; Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 |
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| BabyScreen+ newborn screening v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB; Multiple endocrine neoplasia IIA |
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| BabyScreen+ newborn screening v0.0 | REN |
Zornitza Stark gene: REN was added gene: REN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome; Rapadilino syndrome; Baller-Gerold syndrome |
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| BabyScreen+ newborn screening v0.0 | RDX |
Zornitza Stark gene: RDX was added gene: RDX was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RDX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RDX were set to 19215054; 22567349; 15314067; 26226137; 17226784 Phenotypes for gene: RDX were set to Deafness, autosomal recessive 24, MIM# 611022 |
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| BabyScreen+ newborn screening v0.0 | RBM8A |
Zornitza Stark gene: RBM8A was added gene: RBM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome |
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| BabyScreen+ newborn screening v0.0 | RB1 |
Zornitza Stark gene: RB1 was added gene: RB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Retinoblastoma |
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| BabyScreen+ newborn screening v0.0 | RASA1 |
Zornitza Stark gene: RASA1 was added gene: RASA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation |
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| BabyScreen+ newborn screening v0.0 | RAPSN |
Zornitza Stark gene: RAPSN was added gene: RAPSN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome, MIM#616326 |
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| BabyScreen+ newborn screening v0.0 | RAI1 |
Zornitza Stark gene: RAI1 was added gene: RAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome; Potocki-Lupski syndrome |
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| BabyScreen+ newborn screening v0.0 | RAG2 |
Zornitza Stark gene: RAG2 was added gene: RAG2 was added to gNBS. Sources: BEginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG2 were set to Omenn syndrome, MIM#603554 |
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| BabyScreen+ newborn screening v0.0 | RAG1 |
Zornitza Stark gene: RAG1 was added gene: RAG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAG1 were set to Omenn syndrome, MIM#603554 |
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| BabyScreen+ newborn screening v0.0 | RAF1 |
Zornitza Stark gene: RAF1 was added gene: RAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Noonan syndrome |
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| BabyScreen+ newborn screening v0.0 | RAB7A |
Zornitza Stark gene: RAB7A was added gene: RAB7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | RAB3GAP2 |
Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP2 were set to 20967465; 23420520 Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, MIM# 614225 |
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| BabyScreen+ newborn screening v0.0 | RAB3GAP1 |
Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome |
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| BabyScreen+ newborn screening v0.0 | RAB27A |
Zornitza Stark gene: RAB27A was added gene: RAB27A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome, MIM#607624 |
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| BabyScreen+ newborn screening v0.0 | RAB23 |
Zornitza Stark gene: RAB23 was added gene: RAB23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB23 were set to Carpenter syndrome |
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| BabyScreen+ newborn screening v0.0 | QDPR |
Zornitza Stark gene: QDPR was added gene: QDPR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency, MIM#261630 |
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| BabyScreen+ newborn screening v0.0 | PYGM |
Zornitza Stark gene: PYGM was added gene: PYGM was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455 |
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| BabyScreen+ newborn screening v0.0 | PYGL |
Zornitza Stark gene: PYGL was added gene: PYGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGL were set to Glycogen storage disease VI |
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| BabyScreen+ newborn screening v0.0 | PTS |
Zornitza Stark gene: PTS was added gene: PTS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, MIM#261640 |
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| BabyScreen+ newborn screening v0.0 | PTPRC |
Zornitza Stark gene: PTPRC was added gene: PTPRC was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 |
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| BabyScreen+ newborn screening v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome |
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| BabyScreen+ newborn screening v0.0 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia |
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| BabyScreen+ newborn screening v0.0 | PTF1A |
Zornitza Stark gene: PTF1A was added gene: PTF1A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to Pancreatic and cerebellar agenesis, MIM# 609069; Pancreatic agenesis 2, MIM# 615935 |
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| BabyScreen+ newborn screening v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Cowden disease; Bannayan-Riley-Ruvalcaba syndrome |
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| BabyScreen+ newborn screening v0.0 | PTCH1 |
Zornitza Stark gene: PTCH1 was added gene: PTCH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome |
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| BabyScreen+ newborn screening v0.0 | PSPH |
Zornitza Stark gene: PSPH was added gene: PSPH was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, MIM# 614023 |
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| BabyScreen+ newborn screening v0.0 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency , MIM# 610992 |
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| BabyScreen+ newborn screening v0.0 | PSAP |
Zornitza Stark gene: PSAP was added gene: PSAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy |
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| BabyScreen+ newborn screening v0.0 | PRX |
Zornitza Stark gene: PRX was added gene: PRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | PROS1 |
Zornitza Stark gene: PROS1 was added gene: PROS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROS1 were set to Protein S deficiency |
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| BabyScreen+ newborn screening v0.0 | PROP1 |
Zornitza Stark gene: PROP1 was added gene: PROP1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, MIM#262600 |
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| BabyScreen+ newborn screening v0.0 | PROKR2 |
Zornitza Stark gene: PROKR2 was added gene: PROKR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism |
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| BabyScreen+ newborn screening v0.0 | PROC |
Zornitza Stark gene: PROC was added gene: PROC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency |
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| BabyScreen+ newborn screening v0.0 | PRKAR1A |
Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Carney complex |
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| BabyScreen+ newborn screening v0.0 | PRKDC |
Zornitza Stark gene: PRKDC was added gene: PRKDC was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PRKDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRKDC were set to Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966 |
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| BabyScreen+ newborn screening v0.0 | PRF1 |
Zornitza Stark gene: PRF1 was added gene: PRF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRF1 were set to Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 |
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| BabyScreen+ newborn screening v0.0 | PREPL |
Zornitza Stark gene: PREPL was added gene: PREPL was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22, MIM# 616224 |
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| BabyScreen+ newborn screening v0.0 | PQBP1 |
Zornitza Stark gene: PQBP1 was added gene: PQBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to Mental retardation |
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| BabyScreen+ newborn screening v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis |
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| BabyScreen+ newborn screening v0.0 | POU4F3 |
Zornitza Stark gene: POU4F3 was added gene: POU4F3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POU4F3 were set to Deafness, autosomal dominant |
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| BabyScreen+ newborn screening v0.0 | POU3F4 |
Zornitza Stark gene: POU3F4 was added gene: POU3F4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: POU3F4 were set to Deafness, X-linked |
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| BabyScreen+ newborn screening v0.0 | POU1F1 |
Zornitza Stark gene: POU1F1 was added gene: POU1F1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, MIM#613038 |
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| BabyScreen+ newborn screening v0.0 | PORCN |
Zornitza Stark gene: PORCN was added gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PORCN were set to Focal dermal hypoplasia |
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| BabyScreen+ newborn screening v0.0 | POR |
Zornitza Stark gene: POR was added gene: POR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome, MIM#201750 |
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| BabyScreen+ newborn screening v0.0 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 |
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| BabyScreen+ newborn screening v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; Walker-Warburg syndrome |
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| BabyScreen+ newborn screening v0.0 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
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| BabyScreen+ newborn screening v0.0 | POLH |
Zornitza Stark gene: POLH was added gene: POLH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLH were set to Xeroderma pigmentosum |
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| BabyScreen+ newborn screening v0.0 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders |
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| BabyScreen+ newborn screening v0.0 | PNPO |
Zornitza Stark gene: PNPO was added gene: PNPO was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090 |
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| BabyScreen+ newborn screening v0.0 | PNKP |
Zornitza Stark gene: PNKP was added gene: PNKP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay |
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| BabyScreen+ newborn screening v0.0 | PNKD |
Zornitza Stark gene: PNKD was added gene: PNKD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia |
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| BabyScreen+ newborn screening v0.0 | PMP22 |
Zornitza Stark gene: PMP22 was added gene: PMP22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | PMM2 |
Zornitza Stark gene: PMM2 was added gene: PMM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia |
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| BabyScreen+ newborn screening v0.0 | PLPBP |
Zornitza Stark gene: PLPBP was added gene: PLPBP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent , MIM#617290 |
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| BabyScreen+ newborn screening v0.0 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked |
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| BabyScreen+ newborn screening v0.0 | PLOD1 |
Zornitza Stark gene: PLOD1 was added gene: PLOD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type |
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| BabyScreen+ newborn screening v0.0 | PLG |
Zornitza Stark gene: PLG was added gene: PLG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLG were set to 29548426; 28795768; 10233898; 9242524; 29987869; 21174000 Phenotypes for gene: PLG were set to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090 |
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| BabyScreen+ newborn screening v0.0 | PLEC |
Zornitza Stark gene: PLEC was added gene: PLEC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to Muscular dystrophy; Epidermolysis bullosa simplex |
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| BabyScreen+ newborn screening v0.0 | PLCE1 |
Zornitza Stark gene: PLCE1 was added gene: PLCE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCE1 were set to Nephrotic syndrome |
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| BabyScreen+ newborn screening v0.0 | PLA2G6 |
Zornitza Stark gene: PLA2G6 was added gene: PLA2G6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 |
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| BabyScreen+ newborn screening v0.0 | PKLR |
Zornitza Stark gene: PKLR was added gene: PKLR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, MIM#266200 |
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| BabyScreen+ newborn screening v0.0 | PKHD1 |
Zornitza Stark gene: PKHD1 was added gene: PKHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease |
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| BabyScreen+ newborn screening v0.0 | PKD2 |
Zornitza Stark gene: PKD2 was added gene: PKD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD2 were set to Polycystic kidney disease |
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| BabyScreen+ newborn screening v0.0 | PKD1 |
Zornitza Stark gene: PKD1 was added gene: PKD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKD1 were set to Polycystic kidney disease |
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| BabyScreen+ newborn screening v0.0 | PINK1 |
Zornitza Stark gene: PINK1 was added gene: PINK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset |
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| BabyScreen+ newborn screening v0.0 | PIK3CD |
Zornitza Stark gene: PIK3CD was added gene: PIK3CD was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513 |
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| BabyScreen+ newborn screening v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, MIM# 615214; Immunodeficiency 36, MIM# 616005 |
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| BabyScreen+ newborn screening v0.0 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 32694024; 24706016; 26545172; 24357517; 33333793; 22305531 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 |
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| BabyScreen+ newborn screening v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5 |
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| BabyScreen+ newborn screening v0.0 | PHYH |
Zornitza Stark gene: PHYH was added gene: PHYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHYH were set to Refsum disease |
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| BabyScreen+ newborn screening v0.0 | PHKG2 |
Zornitza Stark gene: PHKG2 was added gene: PHKG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKG2 were set to Phosphorylase kinase deficiency |
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| BabyScreen+ newborn screening v0.0 | PHKB |
Zornitza Stark gene: PHKB was added gene: PHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency |
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| BabyScreen+ newborn screening v0.0 | PHKA2 |
Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHKA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA2 were set to Phosphorylase kinase deficiency |
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| BabyScreen+ newborn screening v0.0 | PHGDH |
Zornitza Stark gene: PHGDH was added gene: PHGDH was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Phosphoglycerate dehydrogenase deficiency, MIM# 601815 |
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| BabyScreen+ newborn screening v0.0 | PHEX |
Zornitza Stark gene: PHEX was added gene: PHEX was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, MIM# 307800 |
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| BabyScreen+ newborn screening v0.0 | PGM3 |
Zornitza Stark gene: PGM3 was added gene: PGM3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM# 615816 |
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| BabyScreen+ newborn screening v0.0 | PGM1 |
Zornitza Stark gene: PGM1 was added gene: PGM1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, MIM# 614921 |
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| BabyScreen+ newborn screening v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome |
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| BabyScreen+ newborn screening v0.0 | PFKM |
Zornitza Stark gene: PFKM was added gene: PFKM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease 7 |
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| BabyScreen+ newborn screening v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Rhizomelic chondrodysplasia punctata; Refsum disease |
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| BabyScreen+ newborn screening v0.0 | PEX6 |
Zornitza Stark gene: PEX6 was added gene: PEX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX5 |
Zornitza Stark gene: PEX5 was added gene: PEX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX3 |
Zornitza Stark gene: PEX3 was added gene: PEX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX26 |
Zornitza Stark gene: PEX26 was added gene: PEX26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX2 |
Zornitza Stark gene: PEX2 was added gene: PEX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX13 |
Zornitza Stark gene: PEX13 was added gene: PEX13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX12 |
Zornitza Stark gene: PEX12 was added gene: PEX12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX10 |
Zornitza Stark gene: PEX10 was added gene: PEX10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Zellweger syndrome |
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| BabyScreen+ newborn screening v0.0 | PDZD7 |
Zornitza Stark gene: PDZD7 was added gene: PDZD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDZD7 were set to Usher syndrome |
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| BabyScreen+ newborn screening v0.0 | PDX1 |
Zornitza Stark gene: PDX1 was added gene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370 |
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| BabyScreen+ newborn screening v0.0 | PDSS2 |
Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM# 614652 |
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| BabyScreen+ newborn screening v0.0 | PDSS1 |
Zornitza Stark gene: PDSS1 was added gene: PDSS1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651 |
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| BabyScreen+ newborn screening v0.0 | PDHX |
Zornitza Stark gene: PDHX was added gene: PDHX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency |
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| BabyScreen+ newborn screening v0.0 | PDHA1 |
Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency |
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| BabyScreen+ newborn screening v0.0 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance |
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| BabyScreen+ newborn screening v0.0 | PCNT |
Zornitza Stark gene: PCNT was added gene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2 |
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| BabyScreen+ newborn screening v0.0 | PCDH15 |
Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCDH15 were set to Usher syndrome |
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| BabyScreen+ newborn screening v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia |
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| BabyScreen+ newborn screening v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054 |
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| BabyScreen+ newborn screening v0.0 | PCBD1 |
Zornitza Stark gene: PCBD1 was added gene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 |
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| BabyScreen+ newborn screening v0.0 | PC |
Zornitza Stark gene: PC was added gene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency |
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| BabyScreen+ newborn screening v0.0 | PAX8 |
Zornitza Stark gene: PAX8 was added gene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
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| BabyScreen+ newborn screening v0.0 | PAX6 |
Zornitza Stark gene: PAX6 was added gene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX6 were set to Aniridia |
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| BabyScreen+ newborn screening v0.0 | PAX3 |
Zornitza Stark gene: PAX3 was added gene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX3 were set to Waardenburg syndrome |
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| BabyScreen+ newborn screening v0.0 | PANK2 |
Zornitza Stark gene: PANK2 was added gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 |
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| BabyScreen+ newborn screening v0.0 | PALB2 |
Zornitza Stark gene: PALB2 was added gene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200671 Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832 |
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| BabyScreen+ newborn screening v0.0 | PAK3 |
Zornitza Stark gene: PAK3 was added gene: PAK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked |
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| BabyScreen+ newborn screening v0.0 | PAH |
Zornitza Stark gene: PAH was added gene: PAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAH were set to Phenylketonuria, MIM#261600 |
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| BabyScreen+ newborn screening v0.0 | P2RY12 |
Zornitza Stark gene: P2RY12 was added gene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987 Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354 |
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| BabyScreen+ newborn screening v0.0 | OXCT1 |
Zornitza Stark gene: OXCT1 was added gene: OXCT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050 |
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| BabyScreen+ newborn screening v0.0 | OTOGL |
Zornitza Stark gene: OTOGL was added gene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOGL were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | OTOF |
Zornitza Stark gene: OTOF was added gene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOF were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | OTOA |
Zornitza Stark gene: OTOA was added gene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOA were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250 |
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| BabyScreen+ newborn screening v0.0 | OSTM1 |
Zornitza Stark gene: OSTM1 was added gene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSTM1 were set to Osteopetrosis |
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| BabyScreen+ newborn screening v0.0 | OSMR |
Zornitza Stark gene: OSMR was added gene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous |
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| BabyScreen+ newborn screening v0.0 | ORC1 |
Zornitza Stark gene: ORC1 was added gene: ORC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome |
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| BabyScreen+ newborn screening v0.0 | OPA1 |
Zornitza Stark gene: OPA1 was added gene: OPA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy 1 |
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| BabyScreen+ newborn screening v0.0 | OFD1 |
Zornitza Stark gene: OFD1 was added gene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OFD1 were set to Oral-facial-digital syndrome |
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| BabyScreen+ newborn screening v0.0 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome |
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| BabyScreen+ newborn screening v0.0 | OCA2 |
Zornitza Stark gene: OCA2 was added gene: OCA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Albinism, oculocutaneous |
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| BabyScreen+ newborn screening v0.0 | OBSL1 |
Zornitza Stark gene: OBSL1 was added gene: OBSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OBSL1 were set to 3-M syndrome |
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| BabyScreen+ newborn screening v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800 |
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| BabyScreen+ newborn screening v0.0 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NSD1 were set to Sotos syndrome |
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| BabyScreen+ newborn screening v0.0 | NR5A1 |
Zornitza Stark gene: NR5A1 was added gene: NR5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR5A1 were set to 46, XX sex reversal 4, MIM# 617480; 46XY sex reversal 3, MIM# 612965 |
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| BabyScreen+ newborn screening v0.0 | NR3C2 |
Zornitza Stark gene: NR3C2 was added gene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735 |
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| BabyScreen+ newborn screening v0.0 | NR0B1 |
Zornitza Stark gene: NR0B1 was added gene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia |
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| BabyScreen+ newborn screening v0.0 | NPHS1 |
Zornitza Stark gene: NPHS1 was added gene: NPHS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type |
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| BabyScreen+ newborn screening v0.0 | NPHP4 |
Zornitza Stark gene: NPHP4 was added gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | NPHP3 |
Zornitza Stark gene: NPHP3 was added gene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Nephronophthisis |
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| BabyScreen+ newborn screening v0.0 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625 |
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| BabyScreen+ newborn screening v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220 |
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| BabyScreen+ newborn screening v0.0 | NOTCH3 |
Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
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| BabyScreen+ newborn screening v0.0 | NOTCH2 |
Zornitza Stark gene: NOTCH2 was added gene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome |
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| BabyScreen+ newborn screening v0.0 | NOG |
Zornitza Stark gene: NOG was added gene: NOG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOG were set to Symphalangism, proximal, 1A |
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| BabyScreen+ newborn screening v0.0 | NNT |
Zornitza Stark gene: NNT was added gene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736 |
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| BabyScreen+ newborn screening v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
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| BabyScreen+ newborn screening v0.0 | NIPBL |
Zornitza Stark gene: NIPBL was added gene: NIPBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome |
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| BabyScreen+ newborn screening v0.0 | NIPAL4 |
Zornitza Stark gene: NIPAL4 was added gene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | NHLRC1 |
Zornitza Stark gene: NHLRC1 was added gene: NHLRC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora |
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| BabyScreen+ newborn screening v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 |
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| BabyScreen+ newborn screening v0.0 | NGLY1 |
Zornitza Stark gene: NGLY1 was added gene: NGLY1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function |
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| BabyScreen+ newborn screening v0.0 | NF2 |
Zornitza Stark gene: NF2 was added gene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis 2 |
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| BabyScreen+ newborn screening v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 |
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| BabyScreen+ newborn screening v0.0 | NEUROG3 |
Zornitza Stark gene: NEUROG3 was added gene: NEUROG3 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG3 were set to 32574610; 16855267; 21490072; 28724572 Phenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370 |
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| BabyScreen+ newborn screening v0.0 | NEU1 |
Zornitza Stark gene: NEU1 was added gene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEU1 were set to Sialidosis |
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| BabyScreen+ newborn screening v0.0 | NEK8 |
Zornitza Stark gene: NEK8 was added gene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306 Phenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 |
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| BabyScreen+ newborn screening v0.0 | NEK1 |
Zornitza Stark gene: NEK1 was added gene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405 Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 |
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| BabyScreen+ newborn screening v0.0 | NEFL |
Zornitza Stark gene: NEFL was added gene: NEFL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | NEB |
Zornitza Stark gene: NEB was added gene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to Nemaline myopathy |
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| BabyScreen+ newborn screening v0.0 | NDP |
Zornitza Stark gene: NDP was added gene: NDP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to Norrie disease |
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| BabyScreen+ newborn screening v0.0 | NCF4 |
Zornitza Stark gene: NCF4 was added gene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM# 613960 |
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| BabyScreen+ newborn screening v0.0 | NCF2 |
Zornitza Stark gene: NCF2 was added gene: NCF2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF2 were set to Chronic granulomatous disease, MIM#233710 |
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| BabyScreen+ newborn screening v0.0 | NCF1 |
Zornitza Stark gene: NCF1 was added gene: NCF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NCF1 were set to Chronic granulomatous disease, MIM#233700 |
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| BabyScreen+ newborn screening v0.0 | NBN |
Zornitza Stark gene: NBN was added gene: NBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260 |
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| BabyScreen+ newborn screening v0.0 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310 |
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| BabyScreen+ newborn screening v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to Sanfilippo syndrome type B |
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| BabyScreen+ newborn screening v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency |
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| BabyScreen+ newborn screening v0.0 | MYSM1 |
Zornitza Stark gene: MYSM1 was added gene: MYSM1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM# 618116 |
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| BabyScreen+ newborn screening v0.0 | MYO9A |
Zornitza Stark gene: MYO9A was added gene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 |
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| BabyScreen+ newborn screening v0.0 | MYO7A |
Zornitza Stark gene: MYO7A was added gene: MYO7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were set to Usher syndrome |
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| BabyScreen+ newborn screening v0.0 | MYO6 |
Zornitza Stark gene: MYO6 was added gene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO6 were set to Deafness |
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| BabyScreen+ newborn screening v0.0 | MYO3A |
Zornitza Stark gene: MYO3A was added gene: MYO3A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO3A were set to Sensorineural hearing loss |
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| BabyScreen+ newborn screening v0.0 | MYO15A |
Zornitza Stark gene: MYO15A was added gene: MYO15A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO15A were set to Sensorineural hearing loss |
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| BabyScreen+ newborn screening v0.0 | MYH9 |
Zornitza Stark gene: MYH9 was added gene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness |
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| BabyScreen+ newborn screening v0.0 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to gNBS. Sources: BabySeq Category B gene,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH7 were set to Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426 |
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| BabyScreen+ newborn screening v0.0 | MYH3 |
Zornitza Stark gene: MYH3 was added gene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH3 were set to Arthrogryposis, distal |
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| BabyScreen+ newborn screening v0.0 | MYH2 |
Zornitza Stark gene: MYH2 was added gene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia |
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| BabyScreen+ newborn screening v0.0 | MYH14 |
Zornitza Stark gene: MYH14 was added gene: MYH14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH14 were set to Deafness, autosomal dominant |
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| BabyScreen+ newborn screening v0.0 | MYCN |
Zornitza Stark gene: MYCN was added gene: MYCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYCN were set to Feingold syndrome |
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| BabyScreen+ newborn screening v0.0 | MYBPC1 |
Zornitza Stark gene: MYBPC1 was added gene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822 Phenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335 |
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| BabyScreen+ newborn screening v0.0 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377 |
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| BabyScreen+ newborn screening v0.0 | MUTYH |
Zornitza Stark gene: MUTYH was added gene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUTYH were set to MUTYH-associated polyposis |
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| BabyScreen+ newborn screening v0.0 | MUT |
Zornitza Stark Source BabySeq Category A gene was added to MUT. Added phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT |
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| BabyScreen+ newborn screening v0.0 | MUSK |
Zornitza Stark gene: MUSK was added gene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325 |
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| BabyScreen+ newborn screening v0.0 | MTTP |
Zornitza Stark gene: MTTP was added gene: MTTP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Abetalipoproteinaemia |
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| BabyScreen+ newborn screening v0.0 | MTRR |
Zornitza Stark gene: MTRR was added gene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270 |
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| BabyScreen+ newborn screening v0.0 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940 |
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| BabyScreen+ newborn screening v0.0 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked |
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| BabyScreen+ newborn screening v0.0 | MSX2 |
Zornitza Stark gene: MSX2 was added gene: MSX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSX2 were set to Parietal foramina 1 |
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| BabyScreen+ newborn screening v0.0 | MRAP |
Zornitza Stark gene: MRAP was added gene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM# 607398 |
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| BabyScreen+ newborn screening v0.0 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | MPV17 |
Zornitza Stark gene: MPV17 was added gene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic |
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| BabyScreen+ newborn screening v0.0 | MPL |
Zornitza Stark gene: MPL was added gene: MPL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital |
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| BabyScreen+ newborn screening v0.0 | MPI |
Zornitza Stark gene: MPI was added gene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b |
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| BabyScreen+ newborn screening v0.0 | MPDU1 |
Zornitza Stark gene: MPDU1 was added gene: MPDU1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919 Phenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211 |
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| BabyScreen+ newborn screening v0.0 | MOCS2 |
Zornitza Stark gene: MOCS2 was added gene: MOCS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency |
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| BabyScreen+ newborn screening v0.0 | MOCS1 |
Zornitza Stark gene: MOCS1 was added gene: MOCS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency, MIM#252150 |
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| BabyScreen+ newborn screening v0.0 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000 |
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| BabyScreen+ newborn screening v0.0 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410 |
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| BabyScreen+ newborn screening v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 |
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| BabyScreen+ newborn screening v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110 |
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| BabyScreen+ newborn screening v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 |
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| BabyScreen+ newborn screening v0.0 | MLYCD |
Zornitza Stark gene: MLYCD was added gene: MLYCD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency |
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| BabyScreen+ newborn screening v0.0 | MLC1 |
Zornitza Stark gene: MLC1 was added gene: MLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy |
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| BabyScreen+ newborn screening v0.0 | MKS1 |
Zornitza Stark gene: MKS1 was added gene: MKS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Meckel syndrome |
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| BabyScreen+ newborn screening v0.0 | MKKS |
Zornitza Stark gene: MKKS was added gene: MKKS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | MITF |
Zornitza Stark gene: MITF was added gene: MITF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MITF were set to Waardenburg syndrome |
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| BabyScreen+ newborn screening v0.0 | MGP |
Zornitza Stark gene: MGP was added gene: MGP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were set to Keutel syndrome |
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| BabyScreen+ newborn screening v0.0 | MGAT2 |
Zornitza Stark gene: MGAT2 was added gene: MGAT2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGAT2 were set to 22105986; 31420886; 11228641; 33044030; 8808595 Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908 |
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| BabyScreen+ newborn screening v0.0 | MFSD8 |
Zornitza Stark gene: MFSD8 was added gene: MFSD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal |
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| BabyScreen+ newborn screening v0.0 | MFN2 |
Zornitza Stark gene: MFN2 was added gene: MFN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | MEN1 |
Zornitza Stark gene: MEN1 was added gene: MEN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I |
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| BabyScreen+ newborn screening v0.0 | MEGF10 |
Zornitza Stark gene: MEGF10 was added gene: MEGF10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset |
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| BabyScreen+ newborn screening v0.0 | MEFV |
Zornitza Stark gene: MEFV was added gene: MEFV was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEFV were set to Mediterranean fever, familial |
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| BabyScreen+ newborn screening v0.0 | MED25 |
Zornitza Stark gene: MED25 was added gene: MED25 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 25792360; 32816121 Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 |
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| BabyScreen+ newborn screening v0.0 | MED12 |
Zornitza Stark gene: MED12 was added gene: MED12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to Intellectual disability |
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| BabyScreen+ newborn screening v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MECP2 were set to Rett syndrome |
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| BabyScreen+ newborn screening v0.0 | MCPH1 |
Zornitza Stark gene: MCPH1 was added gene: MCPH1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV |
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| BabyScreen+ newborn screening v0.0 | MCFD2 |
Zornitza Stark gene: MCFD2 was added gene: MCFD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined |
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| BabyScreen+ newborn screening v0.0 | MCCC2 |
Zornitza Stark gene: MCCC2 was added gene: MCCC2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM# 210210 |
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| BabyScreen+ newborn screening v0.0 | MCCC1 |
Zornitza Stark gene: MCCC1 was added gene: MCCC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency, MIM# 210200 |
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| BabyScreen+ newborn screening v0.0 | MC2R |
Zornitza Stark gene: MC2R was added gene: MC2R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 |
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| BabyScreen+ newborn screening v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia |
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| BabyScreen+ newborn screening v0.0 | MARVELD2 |
Zornitza Stark gene: MARVELD2 was added gene: MARVELD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | MAP2K2 |
Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome |
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| BabyScreen+ newborn screening v0.0 | MAP2K1 |
Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome |
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| BabyScreen+ newborn screening v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha |
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| BabyScreen+ newborn screening v0.0 | MAGI2 |
Zornitza Stark gene: MAGI2 was added gene: MAGI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAGI2 were set to Infantile spasms |
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| BabyScreen+ newborn screening v0.0 | MAFB |
Zornitza Stark gene: MAFB was added gene: MAFB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome |
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| BabyScreen+ newborn screening v0.0 | MAD2L2 |
Zornitza Stark gene: MAD2L2 was added gene: MAD2L2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243 |
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| BabyScreen+ newborn screening v0.0 | LYST |
Zornitza Stark gene: LYST was added gene: LYST was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM#214500 |
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| BabyScreen+ newborn screening v0.0 | LTBP4 |
Zornitza Stark gene: LTBP4 was added gene: LTBP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC |
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| BabyScreen+ newborn screening v0.0 | LRTOMT |
Zornitza Stark gene: LRTOMT was added gene: LRTOMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRTOMT were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | LRSAM1 |
Zornitza Stark gene: LRSAM1 was added gene: LRSAM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | LRRC6 |
Zornitza Stark gene: LRRC6 was added gene: LRRC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | LRPPRC |
Zornitza Stark gene: LRPPRC was added gene: LRPPRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to Leigh syndrome |
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| BabyScreen+ newborn screening v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome |
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| BabyScreen+ newborn screening v0.0 | LRP4 |
Zornitza Stark gene: LRP4 was added gene: LRP4 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 |
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| BabyScreen+ newborn screening v0.0 | LRP2 |
Zornitza Stark gene: LRP2 was added gene: LRP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome |
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| BabyScreen+ newborn screening v0.0 | LOXHD1 |
Zornitza Stark gene: LOXHD1 was added gene: LOXHD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | LMX1B |
Zornitza Stark gene: LMX1B was added gene: LMX1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMX1B were set to Nail patella syndrome |
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| BabyScreen+ newborn screening v0.0 | LMOD3 |
Zornitza Stark gene: LMOD3 was added gene: LMOD3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD3 were set to Nemaline myopathy |
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| BabyScreen+ newborn screening v0.0 | LMBRD1 |
Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, MIM#277380 |
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| BabyScreen+ newborn screening v0.0 | LITAF |
Zornitza Stark gene: LITAF was added gene: LITAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | LIPA |
Zornitza Stark gene: LIPA was added gene: LIPA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Wolman syndrome, MIM#278000 |
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| BabyScreen+ newborn screening v0.0 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation |
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| BabyScreen+ newborn screening v0.0 | LIFR |
Zornitza Stark gene: LIFR was added gene: LIFR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome |
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| BabyScreen+ newborn screening v0.0 | LHX4 |
Zornitza Stark gene: LHX4 was added gene: LHX4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: LHX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4, MIM# 262700 |
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| BabyScreen+ newborn screening v0.0 | LHX3 |
Zornitza Stark gene: LHX3 was added gene: LHX3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, MIM#221750 |
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| BabyScreen+ newborn screening v0.0 | LHFPL5 |
Zornitza Stark gene: LHFPL5 was added gene: LHFPL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | LEPR |
Zornitza Stark gene: LEPR was added gene: LEPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency |
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| BabyScreen+ newborn screening v0.0 | LDLR |
Zornitza Stark gene: LDLR was added gene: LDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDLR were set to Hypercholesterolemia |
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| BabyScreen+ newborn screening v0.0 | LARS2 |
Zornitza Stark gene: LARS2 was added gene: LARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to Perrault syndrome |
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| BabyScreen+ newborn screening v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome |
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| BabyScreen+ newborn screening v0.0 | LAMTOR2 |
Zornitza Stark gene: LAMTOR2 was added gene: LAMTOR2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: LAMTOR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMTOR2 were set to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 |
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| BabyScreen+ newborn screening v0.0 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: LAMP2 were set to Danon disease |
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| BabyScreen+ newborn screening v0.0 | LAMC2 |
Zornitza Stark gene: LAMC2 was added gene: LAMC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional |
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| BabyScreen+ newborn screening v0.0 | LAMB3 |
Zornitza Stark gene: LAMB3 was added gene: LAMB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional |
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| BabyScreen+ newborn screening v0.0 | LAMB2 |
Zornitza Stark gene: LAMB2 was added gene: LAMB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB2 were set to Pierson syndrome |
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| BabyScreen+ newborn screening v0.0 | LAMA3 |
Zornitza Stark gene: LAMA3 was added gene: LAMA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional |
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| BabyScreen+ newborn screening v0.0 | LAMA2 |
Zornitza Stark gene: LAMA2 was added gene: LAMA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient |
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| BabyScreen+ newborn screening v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome |
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| BabyScreen+ newborn screening v0.0 | KRT6A |
Zornitza Stark gene: KRT6A was added gene: KRT6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT6A were set to Pachyonychia congenita |
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| BabyScreen+ newborn screening v0.0 | KRT5 |
Zornitza Stark gene: KRT5 was added gene: KRT5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex |
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| BabyScreen+ newborn screening v0.0 | KRT17 |
Zornitza Stark gene: KRT17 was added gene: KRT17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT17 were set to Pachyonychia congenita |
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| BabyScreen+ newborn screening v0.0 | KRT16 |
Zornitza Stark gene: KRT16 was added gene: KRT16 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT16 were set to Pachyonychia congenita |
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| BabyScreen+ newborn screening v0.0 | KRT14 |
Zornitza Stark gene: KRT14 was added gene: KRT14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex |
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| BabyScreen+ newborn screening v0.0 | KRAS |
Zornitza Stark gene: KRAS was added gene: KRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRAS were set to Noonan syndrome |
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| BabyScreen+ newborn screening v0.0 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | KLHL41 |
Zornitza Stark gene: KLHL41 was added gene: KLHL41 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy |
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| BabyScreen+ newborn screening v0.0 | KLHL40 |
Zornitza Stark gene: KLHL40 was added gene: KLHL40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL40 were set to Nemaline myopathy |
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| BabyScreen+ newborn screening v0.0 | KLF1 |
Zornitza Stark gene: KLF1 was added gene: KLF1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF1 were set to 33339573; 32815883; 32032242; 21055716; 32221653; 31818881 Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 |
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| BabyScreen+ newborn screening v0.0 | KIT |
Zornitza Stark gene: KIT was added gene: KIT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Piebaldism |
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| BabyScreen+ newborn screening v0.0 | KIF21A |
Zornitza Stark gene: KIF21A was added gene: KIF21A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital |
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| BabyScreen+ newborn screening v0.0 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 |
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| BabyScreen+ newborn screening v0.0 | KCTD7 |
Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic |
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| BabyScreen+ newborn screening v0.0 | KCNT1 |
Zornitza Stark gene: KCNT1 was added gene: KCNT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy 14, MIM# 614959 |
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| BabyScreen+ newborn screening v0.0 | KCNQ4 |
Zornitza Stark gene: KCNQ4 was added gene: KCNQ4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant |
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| BabyScreen+ newborn screening v0.0 | KCNQ2 |
Zornitza Stark gene: KCNQ2 was added gene: KCNQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNQ2 were set to Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720 |
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| BabyScreen+ newborn screening v0.0 | KCNQ1 |
Zornitza Stark gene: KCNQ1 was added gene: KCNQ1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to Short QT syndrome 2, MIM# 609621; Long QT syndrome 1, MIM# 192500; Jervell and Lange-Nielsen syndrome, MIM# 220400 |
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| BabyScreen+ newborn screening v0.0 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis |
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| BabyScreen+ newborn screening v0.0 | KCNJ11 |
Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, MIM#601820 |
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| BabyScreen+ newborn screening v0.0 | KCNJ1 |
Zornitza Stark gene: KCNJ1 was added gene: KCNJ1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ1 were set to Bartter syndrome |
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| BabyScreen+ newborn screening v0.0 | KCNA1 |
Zornitza Stark gene: KCNA1 was added gene: KCNA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA1 were set to Episodic ataxia type 1 |
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| BabyScreen+ newborn screening v0.0 | KBTBD13 |
Zornitza Stark gene: KBTBD13 was added gene: KBTBD13 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KBTBD13 were set to Nemaline myopathy |
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| BabyScreen+ newborn screening v0.0 | KAT6B |
Zornitza Stark gene: KAT6B was added gene: KAT6B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KAT6B were set to Genitopatellar syndrome |
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| BabyScreen+ newborn screening v0.0 | KARS |
Zornitza Stark gene: KARS was added gene: KARS was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 30737337; 30715177; 31116475 Phenotypes for gene: KARS were set to deafness with progressive leukodystrophy |
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| BabyScreen+ newborn screening v0.0 | KANSL1 |
Zornitza Stark gene: KANSL1 was added gene: KANSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome |
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| BabyScreen+ newborn screening v0.0 | JAK3 |
Zornitza Stark gene: JAK3 was added gene: JAK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, MIM#600802 |
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| BabyScreen+ newborn screening v0.0 | JAG1 |
Zornitza Stark gene: JAG1 was added gene: JAG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JAG1 were set to Alagille syndrome |
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| BabyScreen+ newborn screening v0.0 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IYD were set to 18765512; 30240412; 18434651 Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis 4, MIM# 274800 |
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| BabyScreen+ newborn screening v0.0 | IVD |
Zornitza Stark gene: IVD was added gene: IVD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to Isovaleric acidemia, MIM#243500 |
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| BabyScreen+ newborn screening v0.0 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia |
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| BabyScreen+ newborn screening v0.0 | ITGB2 |
Zornitza Stark gene: ITGB2 was added gene: ITGB2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, MIM# 116920 |
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| BabyScreen+ newborn screening v0.0 | ITGA3 |
Zornitza Stark gene: ITGA3 was added gene: ITGA3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
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| BabyScreen+ newborn screening v0.0 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
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| BabyScreen+ newborn screening v0.0 | IRF6 |
Zornitza Stark gene: IRF6 was added gene: IRF6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRF6 were set to van der Woude syndrome MIM# 119300 |
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| BabyScreen+ newborn screening v0.0 | IRAK4 |
Zornitza Stark gene: IRAK4 was added gene: IRAK4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRAK4 were set to Immunodeficiency 67, MIM# 607676 |
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| BabyScreen+ newborn screening v0.0 | IQCB1 |
Zornitza Stark gene: IQCB1 was added gene: IQCB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 |
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| BabyScreen+ newborn screening v0.0 | INVS |
Zornitza Stark gene: INVS was added gene: INVS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2 |
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| BabyScreen+ newborn screening v0.0 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism |
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| BabyScreen+ newborn screening v0.0 | INS |
Zornitza Stark gene: INS was added gene: INS was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life |
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| BabyScreen+ newborn screening v0.0 | ILDR1 |
Zornitza Stark gene: ILDR1 was added gene: ILDR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ILDR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ILDR1 were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | IL7R |
Zornitza Stark gene: IL7R was added gene: IL7R was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 |
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| BabyScreen+ newborn screening v0.0 | IL2RG |
Zornitza Stark gene: IL2RG was added gene: IL2RG was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, MIM#312863 |
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| BabyScreen+ newborn screening v0.0 | IL2RB |
Zornitza Stark gene: IL2RB was added gene: IL2RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495 |
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| BabyScreen+ newborn screening v0.0 | IL10RB |
Zornitza Stark gene: IL10RB was added gene: IL10RB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 |
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| BabyScreen+ newborn screening v0.0 | IL10RA |
Zornitza Stark gene: IL10RA was added gene: IL10RA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL10RA were set to Inflammatory bowel disease, MIM#613148 |
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| BabyScreen+ newborn screening v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to Incontinentia pigmenti 1 |
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| BabyScreen+ newborn screening v0.0 | IGSF1 |
Zornitza Stark gene: IGSF1 was added gene: IGSF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement |
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| BabyScreen+ newborn screening v0.0 | IGLL1 |
Zornitza Stark gene: IGLL1 was added gene: IGLL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGLL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGLL1 were set to Agammaglobulinaemia 2, MIM# 613500 |
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| BabyScreen+ newborn screening v0.0 | IGHMBP2 |
Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress |
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| BabyScreen+ newborn screening v0.0 | IGHM |
Zornitza Stark gene: IGHM was added gene: IGHM was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHM were set to Agammaglobulinaemia 1, MIM# 601495 |
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| BabyScreen+ newborn screening v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014 |
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| BabyScreen+ newborn screening v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to Mucopolysaccharidosis II |
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| BabyScreen+ newborn screening v0.0 | HTRA1 |
Zornitza Stark gene: HTRA1 was added gene: HTRA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HTRA1 were set to CARASIL syndrome |
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| BabyScreen+ newborn screening v0.0 | HSPG2 |
Zornitza Stark gene: HSPG2 was added gene: HSPG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome |
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| BabyScreen+ newborn screening v0.0 | HSPB8 |
Zornitza Stark gene: HSPB8 was added gene: HSPB8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L |
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| BabyScreen+ newborn screening v0.0 | HSD3B7 |
Zornitza Stark gene: HSD3B7 was added gene: HSD3B7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to 3 beta-hydroxysteroid dehydrogenase deficiency |
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| BabyScreen+ newborn screening v0.0 | HSD3B2 |
Zornitza Stark gene: HSD3B2 was added gene: HSD3B2 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 |
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| BabyScreen+ newborn screening v0.0 | HSD17B4 |
Zornitza Stark gene: HSD17B4 was added gene: HSD17B4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency |
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| BabyScreen+ newborn screening v0.0 | HSD17B3 |
Zornitza Stark gene: HSD17B3 was added gene: HSD17B3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia |
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| BabyScreen+ newborn screening v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 17-beta-hydroxysteroid dehydrogenase X deficiency |
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| BabyScreen+ newborn screening v0.0 | HRAS |
Zornitza Stark gene: HRAS was added gene: HRAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Costello syndrome |
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| BabyScreen+ newborn screening v0.0 | HPS5 |
Zornitza Stark gene: HPS5 was added gene: HPS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5 |
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| BabyScreen+ newborn screening v0.0 | HPS4 |
Zornitza Stark gene: HPS4 was added gene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4 |
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| BabyScreen+ newborn screening v0.0 | HPS3 |
Zornitza Stark gene: HPS3 was added gene: HPS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3 |
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| BabyScreen+ newborn screening v0.0 | HPS1 |
Zornitza Stark gene: HPS1 was added gene: HPS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Hawkinsinuria , MIM#140350; Tyrosinaemia, type III 276710 |
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| BabyScreen+ newborn screening v0.0 | HOMER2 |
Zornitza Stark gene: HOMER2 was added gene: HOMER2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness |
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| BabyScreen+ newborn screening v0.0 | HNF4A |
Zornitza Stark gene: HNF4A was added gene: HNF4A was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026; Hypoglycaemia, hyperinsulinaemic, MIM#125850 |
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| BabyScreen+ newborn screening v0.0 | HNF1A |
Zornitza Stark gene: HNF1A was added gene: HNF1A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496 |
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| BabyScreen+ newborn screening v0.0 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria, MIM#246450 |
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| BabyScreen+ newborn screening v0.0 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM#253270 |
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| BabyScreen+ newborn screening v0.0 | HK1 |
Zornitza Stark gene: HK1 was added gene: HK1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HK1 were set to Haemolytic anaemia due to hexokinase deficiency , MIM#235700 |
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| BabyScreen+ newborn screening v0.0 | HINT1 |
Zornitza Stark gene: HINT1 was added gene: HINT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia |
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| BabyScreen+ newborn screening v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC |
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| BabyScreen+ newborn screening v0.0 | HGF |
Zornitza Stark gene: HGF was added gene: HGF was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HGF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGF were set to Deafness, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | HGD |
Zornitza Stark gene: HGD was added gene: HGD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGD were set to Alkaptonuria |
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| BabyScreen+ newborn screening v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms |
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| BabyScreen+ newborn screening v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease |
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| BabyScreen+ newborn screening v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septooptic dysplasia, MIM# 182230 |
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| BabyScreen+ newborn screening v0.0 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle |
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| BabyScreen+ newborn screening v0.0 | HCFC1 |
Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HCFC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541 |
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| BabyScreen+ newborn screening v0.0 | HBB |
Zornitza Stark gene: HBB was added gene: HBB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Beta-thalassemia |
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| BabyScreen+ newborn screening v0.0 | HBA2 |
Zornitza Stark gene: HBA2 was added gene: HBA2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Thalassemia, alpha, MIM#604131 |
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| BabyScreen+ newborn screening v0.0 | HBA1 |
Zornitza Stark gene: HBA1 was added gene: HBA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA1 were set to Thalassaemia alpha, MIM#604131 |
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| BabyScreen+ newborn screening v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 |
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| BabyScreen+ newborn screening v0.0 | HARS2 |
Zornitza Stark gene: HARS2 was added gene: HARS2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HARS2 were set to Perrault syndrome; autosomal recessive sensorineural hearing loss |
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| BabyScreen+ newborn screening v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Mitochondrial trifunctional protein deficiency, MIM#609015 |
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| BabyScreen+ newborn screening v0.0 | HADHA |
Zornitza Stark gene: HADHA was added gene: HADHA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM#609015; LCHAD deficiency, MIM# 609016 |
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| BabyScreen+ newborn screening v0.0 | HADH |
Zornitza Stark gene: HADH was added gene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 |
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| BabyScreen+ newborn screening v0.0 | GYS2 |
Zornitza Stark gene: GYS2 was added gene: GYS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS2 were set to Glycogen storage disease 0 |
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| BabyScreen+ newborn screening v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, MIM#253220 |
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| BabyScreen+ newborn screening v0.0 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Glutathione synthetase deficiency |
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| BabyScreen+ newborn screening v0.0 | GRXCR1 |
Zornitza Stark gene: GRXCR1 was added gene: GRXCR1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRXCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRXCR1 were set to 26445815; 20137778; 20137774; 26226137; 25802247; 26969326 Phenotypes for gene: GRXCR1 were set to Deafness, autosomal recessive 25, MIM# 613285 |
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| BabyScreen+ newborn screening v0.0 | GRHPR |
Zornitza Stark gene: GRHPR was added gene: GRHPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II |
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| BabyScreen+ newborn screening v0.0 | GRHL2 |
Zornitza Stark gene: GRHL2 was added gene: GRHL2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GRHL2 were set to Autosomal dominant hearing loss, MIM# 608641 |
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| BabyScreen+ newborn screening v0.0 | GPSM2 |
Zornitza Stark gene: GPSM2 was added gene: GPSM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome |
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| BabyScreen+ newborn screening v0.0 | GPR143 |
Zornitza Stark gene: GPR143 was added gene: GPR143 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPR143 were set to Ocular albinism, type I |
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| BabyScreen+ newborn screening v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome |
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| BabyScreen+ newborn screening v0.0 | GOT2 |
Zornitza Stark gene: GOT2 was added gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721 |
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| BabyScreen+ newborn screening v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId |
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| BabyScreen+ newborn screening v0.0 | GNPTG |
Zornitza Stark gene: GNPTG was added gene: GNPTG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma |
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| BabyScreen+ newborn screening v0.0 | GNPTAB |
Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to Mucolipidosis II |
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| BabyScreen+ newborn screening v0.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Inclusion body myopathy |
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| BabyScreen+ newborn screening v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GNAS was set to Unknown Phenotypes for gene: GNAS were set to Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism |
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| BabyScreen+ newborn screening v0.0 | GLUD1 |
Zornitza Stark gene: GLUD1 was added gene: GLUD1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLUD1 were set to Hyperinsulinism, MIM#606762 |
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| BabyScreen+ newborn screening v0.0 | GLRB |
Zornitza Stark gene: GLRB was added gene: GLRB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLRB were set to Hyperekplexia 2, MIM# 614619 |
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| BabyScreen+ newborn screening v0.0 | GLRA1 |
Zornitza Stark gene: GLRA1 was added gene: GLRA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400 |
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| BabyScreen+ newborn screening v0.0 | GLIS3 |
Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199 |
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| BabyScreen+ newborn screening v0.0 | GLI3 |
Zornitza Stark gene: GLI3 was added gene: GLI3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome |
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| BabyScreen+ newborn screening v0.0 | GLDC |
Zornitza Stark gene: GLDC was added gene: GLDC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to Glycine encephalopathy |
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| BabyScreen+ newborn screening v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Gangliosidosis GM1 |
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| BabyScreen+ newborn screening v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease |
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| BabyScreen+ newborn screening v0.0 | GJC2 |
Zornitza Stark gene: GJC2 was added gene: GJC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease |
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| BabyScreen+ newborn screening v0.0 | GJB2 |
Zornitza Stark gene: GJB2 was added gene: GJB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJB2 were set to Deafness and palmoplantar keratoderma; Deafness |
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| BabyScreen+ newborn screening v0.0 | GJB1 |
Zornitza Stark gene: GJB1 was added gene: GJB1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy |
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| BabyScreen+ newborn screening v0.0 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia |
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| BabyScreen+ newborn screening v0.0 | GIPC3 |
Zornitza Stark gene: GIPC3 was added gene: GIPC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIPC3 were set to Hearing loss |
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| BabyScreen+ newborn screening v0.0 | GIF |
Zornitza Stark Source Expert list was added to GIF. Added phenotypes Intrinsic factor deficiency # 261000 for gene: GIF |
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| BabyScreen+ newborn screening v0.0 | GGCX |
Zornitza Stark gene: GGCX was added gene: GGCX was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 |
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| BabyScreen+ newborn screening v0.0 | GFPT1 |
Zornitza Stark gene: GFPT1 was added gene: GFPT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle, MIM#610542 |
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| BabyScreen+ newborn screening v0.0 | GFM1 |
Zornitza Stark gene: GFM1 was added gene: GFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1 |
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| BabyScreen+ newborn screening v0.0 | GFAP |
Zornitza Stark gene: GFAP was added gene: GFAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GFAP were set to Alexander disease |
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| BabyScreen+ newborn screening v0.0 | GDAP1 |
Zornitza Stark gene: GDAP1 was added gene: GDAP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | GCK |
Zornitza Stark gene: GCK was added gene: GCK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, MIM#602485 |
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| BabyScreen+ newborn screening v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 |
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| BabyScreen+ newborn screening v0.0 | GCDH |
Zornitza Stark gene: GCDH was added gene: GCDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670 |
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| BabyScreen+ newborn screening v0.0 | GBA |
Zornitza Stark gene: GBA was added gene: GBA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease 1 |
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| BabyScreen+ newborn screening v0.0 | GATA4 |
Zornitza Stark gene: GATA4 was added gene: GATA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA4 were set to Congenital heart defects |
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| BabyScreen+ newborn screening v0.0 | GATA3 |
Zornitza Stark gene: GATA3 was added gene: GATA3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 |
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| BabyScreen+ newborn screening v0.0 | GATA2 |
Zornitza Stark gene: GATA2 was added gene: GATA2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to PMID: 25397911, 30047422 Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038 |
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| BabyScreen+ newborn screening v0.0 | GATA1 |
Zornitza Stark gene: GATA1 was added gene: GATA1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GATA1 were set to Blackfan-Diamond anaemia, ORPHA:124; Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Congenital erythropoietic porphyria, ORPHA:79277; Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 |
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| BabyScreen+ newborn screening v0.0 | GAN |
Zornitza Stark gene: GAN was added gene: GAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy |
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| BabyScreen+ newborn screening v0.0 | GAMT |
Zornitza Stark gene: GAMT was added gene: GAMT was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, MIM# 612736 |
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| BabyScreen+ newborn screening v0.0 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosaemia, MIM#230400 |
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| BabyScreen+ newborn screening v0.0 | GALNS |
Zornitza Stark gene: GALNS was added gene: GALNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA |
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| BabyScreen+ newborn screening v0.0 | GALK1 |
Zornitza Stark gene: GALK1 was added gene: GALK1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, MIM#230200 |
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| BabyScreen+ newborn screening v0.0 | GALE |
Zornitza Stark gene: GALE was added gene: GALE was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALE were set to Galactose epimerase deficiency , MIM#230350 |
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| BabyScreen+ newborn screening v0.0 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe disease |
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| BabyScreen+ newborn screening v0.0 | GAA |
Zornitza Stark gene: GAA was added gene: GAA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Glycogen storage disease II, MIM#232300 |
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| BabyScreen+ newborn screening v0.0 | G6PD |
Zornitza Stark gene: G6PD was added gene: G6PD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency, MIM#300908 |
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| BabyScreen+ newborn screening v0.0 | G6PC3 |
Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital, MIM#612541 |
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| BabyScreen+ newborn screening v0.0 | G6PC |
Zornitza Stark gene: G6PC was added gene: G6PC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, MIM#232200 |
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| BabyScreen+ newborn screening v0.0 | FXN |
Zornitza Stark gene: FXN was added gene: FXN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FXN were set to Friedreich ataxia |
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| BabyScreen+ newborn screening v0.0 | FUCA1 |
Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis |
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| BabyScreen+ newborn screening v0.0 | FTL |
Zornitza Stark gene: FTL was added gene: FTL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FTL were set to Neuroferritinopathy |
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| BabyScreen+ newborn screening v0.0 | FRAS1 |
Zornitza Stark gene: FRAS1 was added gene: FRAS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to Fraser syndrome |
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| BabyScreen+ newborn screening v0.0 | FOXP3 |
Zornitza Stark gene: FOXP3 was added gene: FOXP3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FOXP3 were set to IPEX syndrome, MIM#304790 |
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| BabyScreen+ newborn screening v0.0 | FOXN1 |
Zornitza Stark gene: FOXN1 was added gene: FOXN1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy , MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM# 618806 |
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| BabyScreen+ newborn screening v0.0 | FOXI1 |
Zornitza Stark gene: FOXI1 was added gene: FOXI1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis |
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| BabyScreen+ newborn screening v0.0 | FOXF1 |
Zornitza Stark gene: FOXF1 was added gene: FOXF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins |
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| BabyScreen+ newborn screening v0.0 | FOXC2 |
Zornitza Stark gene: FOXC2 was added gene: FOXC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC2 were set to Lymphoedema, primary |
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| BabyScreen+ newborn screening v0.0 | FOXC1 |
Zornitza Stark gene: FOXC1 was added gene: FOXC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome |
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| BabyScreen+ newborn screening v0.0 | FOXA2 |
Zornitza Stark gene: FOXA2 was added gene: FOXA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXA2 were set to Combined pituitary hormone deficiencies, genetic forms, ORPHA:95494; Congenital isolated hyperinsulinism, ORPHA:657 |
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| BabyScreen+ newborn screening v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder |
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| BabyScreen+ newborn screening v0.0 | FLCN |
Zornitza Stark gene: FLCN was added gene: FLCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome |
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| BabyScreen+ newborn screening v0.0 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 |
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| BabyScreen+ newborn screening v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies |
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| BabyScreen+ newborn screening v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscle-eye-brain disease; Muscular dystrophy, limb girdle 2I |
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| BabyScreen+ newborn screening v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumurase deficiency MIM# 606812 |
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| BabyScreen+ newborn screening v0.0 | FGG |
Zornitza Stark gene: FGG was added gene: FGG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGG were set to Afibrinogenaemia |
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| BabyScreen+ newborn screening v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to Muenke syndrome; Thanatophoric dysplasia type 1; Crouzon syndrome with acanthosis nigricans; LADD syndrome; Hypochondroplasia; Achondroplasia; CATSHL syndrome |
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| BabyScreen+ newborn screening v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR2 were set to Jackson-Weiss syndrome; Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome |
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| BabyScreen+ newborn screening v0.0 | FGFR1 |
Zornitza Stark gene: FGFR1 was added gene: FGFR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR1 were set to Kallmann syndrome |
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| BabyScreen+ newborn screening v0.0 | FGF3 |
Zornitza Stark gene: FGF3 was added gene: FGF3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia |
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| BabyScreen+ newborn screening v0.0 | FGD4 |
Zornitza Stark gene: FGD4 was added gene: FGD4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | FGD1 |
Zornitza Stark gene: FGD1 was added gene: FGD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome |
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| BabyScreen+ newborn screening v0.0 | FGB |
Zornitza Stark gene: FGB was added gene: FGB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGB were set to Afibrinogenaemia |
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| BabyScreen+ newborn screening v0.0 | FGA |
Zornitza Stark gene: FGA was added gene: FGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGA were set to Afibrinogenaemia |
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| BabyScreen+ newborn screening v0.0 | FERMT3 |
Zornitza Stark gene: FERMT3 was added gene: FERMT3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840 |
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| BabyScreen+ newborn screening v0.0 | FBP1 |
Zornitza Stark gene: FBP1 was added gene: FBP1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700 |
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| BabyScreen+ newborn screening v0.0 | FBN2 |
Zornitza Stark gene: FBN2 was added gene: FBN2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FBN2 were set to 33571691 Phenotypes for gene: FBN2 were set to Contractural arachnodactyly, congenital MIM#121050 |
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| BabyScreen+ newborn screening v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Marfan's syndrome; Weill-Marchesani syndrome 2, dominant; Shprintzen-Goldberg syndrome |
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| BabyScreen+ newborn screening v0.0 | FAS |
Zornitza Stark gene: FAS was added gene: FAS was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859 |
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| BabyScreen+ newborn screening v0.0 | FANCL |
Zornitza Stark gene: FANCL was added gene: FANCL was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anaemia, MIM#614083 |
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| BabyScreen+ newborn screening v0.0 | FANCI |
Zornitza Stark gene: FANCI was added gene: FANCI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anaemia, MIM#609053 |
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| BabyScreen+ newborn screening v0.0 | FANCG |
Zornitza Stark gene: FANCG was added gene: FANCG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCG were set to Fanconi anaemia, MIM#614082 |
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| BabyScreen+ newborn screening v0.0 | FANCF |
Zornitza Stark gene: FANCF was added gene: FANCF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to Fanconi anaemia, MIM#603467 |
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| BabyScreen+ newborn screening v0.0 | FANCE |
Zornitza Stark gene: FANCE was added gene: FANCE was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi anaemia, MIM#600901 |
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| BabyScreen+ newborn screening v0.0 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anaemia, MIM#227646 |
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| BabyScreen+ newborn screening v0.0 | FANCC |
Zornitza Stark gene: FANCC was added gene: FANCC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCC were set to Fanconi anaemia, MIM#227645 |
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| BabyScreen+ newborn screening v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to Fanconi anaemia, MIM#300514 |
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| BabyScreen+ newborn screening v0.0 | FANCA |
Zornitza Stark gene: FANCA was added gene: FANCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi anaemia, MIM#227650 |
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| BabyScreen+ newborn screening v0.0 | FAM58A |
Zornitza Stark gene: FAM58A was added gene: FAM58A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations |
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| BabyScreen+ newborn screening v0.0 | FAM20C |
Zornitza Stark gene: FAM20C was added gene: FAM20C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia |
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| BabyScreen+ newborn screening v0.0 | FAM161A |
Zornitza Stark gene: FAM161A was added gene: FAM161A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to Retinal dystrophy |
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| BabyScreen+ newborn screening v0.0 | FAM126A |
Zornitza Stark gene: FAM126A was added gene: FAM126A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract |
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| BabyScreen+ newborn screening v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700 |
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| BabyScreen+ newborn screening v0.0 | F9 |
Zornitza Stark gene: F9 was added gene: F9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F9 were set to Haemophilia B, MIM#306900 |
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| BabyScreen+ newborn screening v0.0 | F8 |
Zornitza Stark gene: F8 was added gene: F8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: F8 were set to Haemophilia A, MIM#306700 |
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| BabyScreen+ newborn screening v0.0 | F7 |
Zornitza Stark gene: F7 was added gene: F7 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500 |
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| BabyScreen+ newborn screening v0.0 | F5 |
Zornitza Stark gene: F5 was added gene: F5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 |
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| BabyScreen+ newborn screening v0.0 | F2 |
Zornitza Stark gene: F2 was added gene: F2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Prothrombin deficiency, MIM#613679 |
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| BabyScreen+ newborn screening v0.0 | F13B |
Zornitza Stark gene: F13B was added gene: F13B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM# 613235 |
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| BabyScreen+ newborn screening v0.0 | F13A1 |
Zornitza Stark gene: F13A1 was added gene: F13A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225 |
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| BabyScreen+ newborn screening v0.0 | F11 |
Zornitza Stark gene: F11 was added gene: F11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F11 were set to Factor XI deficiency |
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| BabyScreen+ newborn screening v0.0 | F10 |
Zornitza Stark gene: F10 was added gene: F10 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600 |
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| BabyScreen+ newborn screening v0.0 | EZH2 |
Zornitza Stark gene: EZH2 was added gene: EZH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EZH2 were set to Weaver syndrome 2 |
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| BabyScreen+ newborn screening v0.0 | EYA4 |
Zornitza Stark gene: EYA4 was added gene: EYA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant |
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| BabyScreen+ newborn screening v0.0 | EYA1 |
Zornitza Stark gene: EYA1 was added gene: EYA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome |
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| BabyScreen+ newborn screening v0.0 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2 |
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| BabyScreen+ newborn screening v0.0 | EXT1 |
Zornitza Stark gene: EXT1 was added gene: EXT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1 |
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| BabyScreen+ newborn screening v0.0 | EVC2 |
Zornitza Stark gene: EVC2 was added gene: EVC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome |
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| BabyScreen+ newborn screening v0.0 | EVC |
Zornitza Stark gene: EVC was added gene: EVC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome |
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| BabyScreen+ newborn screening v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, MIM#602473 |
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| BabyScreen+ newborn screening v0.0 | ETFDH |
Zornitza Stark gene: ETFDH was added gene: ETFDH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, MIM#231680 |
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| BabyScreen+ newborn screening v0.0 | ETFB |
Zornitza Stark gene: ETFB was added gene: ETFB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, MIM#231680 |
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| BabyScreen+ newborn screening v0.0 | ETFA |
Zornitza Stark gene: ETFA was added gene: ETFA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to Glutaric acidaemia IIA, MIM#231680 |
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| BabyScreen+ newborn screening v0.0 | ESRRB |
Zornitza Stark gene: ESRRB was added gene: ESRRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESRRB were set to Hearing loss |
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| BabyScreen+ newborn screening v0.0 | ESPN |
Zornitza Stark gene: ESPN was added gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153 Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006 |
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| BabyScreen+ newborn screening v0.0 | ESCO2 |
Zornitza Stark gene: ESCO2 was added gene: ESCO2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to Roberts syndrome |
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| BabyScreen+ newborn screening v0.0 | ERCC8 |
Zornitza Stark gene: ERCC8 was added gene: ERCC8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to Cockayne syndrome |
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| BabyScreen+ newborn screening v0.0 | ERCC6 |
Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome |
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| BabyScreen+ newborn screening v0.0 | ERCC5 |
Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum |
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| BabyScreen+ newborn screening v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to Xeroderma pigmentosum, group F, MIM# 278760; Fanconi anaemia, complementation group Q, MIM# 615272 |
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| BabyScreen+ newborn screening v0.0 | ERCC2 |
Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum |
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| BabyScreen+ newborn screening v0.0 | EPS8L2 |
Zornitza Stark gene: EPS8L2 was added gene: EPS8L2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637 |
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| BabyScreen+ newborn screening v0.0 | EPS8 |
Zornitza Stark gene: EPS8 was added gene: EPS8 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8 were set to deafness MIM#600205 |
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| BabyScreen+ newborn screening v0.0 | EPM2A |
Zornitza Stark gene: EPM2A was added gene: EPM2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) |
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| BabyScreen+ newborn screening v0.0 | ENPP1 |
Zornitza Stark gene: ENPP1 was added gene: ENPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1 |
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| BabyScreen+ newborn screening v0.0 | ENG |
Zornitza Stark gene: ENG was added gene: ENG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 |
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| BabyScreen+ newborn screening v0.0 | EMD |
Zornitza Stark gene: EMD was added gene: EMD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss |
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| BabyScreen+ newborn screening v0.0 | ELP1 |
Zornitza Stark gene: ELP1 was added gene: ELP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELP1 were set to Dysautonomia, familial |
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| BabyScreen+ newborn screening v0.0 | ELN |
Zornitza Stark gene: ELN was added gene: ELN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis |
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| BabyScreen+ newborn screening v0.0 | ELANE |
Zornitza Stark gene: ELANE was added gene: ELANE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELANE were set to Neutropenia, congenital, MIM#202700 |
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| BabyScreen+ newborn screening v0.0 | EIF2AK3 |
Zornitza Stark gene: EIF2AK3 was added gene: EIF2AK3 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, MIM#226980 |
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| BabyScreen+ newborn screening v0.0 | EGR2 |
Zornitza Stark gene: EGR2 was added gene: EGR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly |
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| BabyScreen+ newborn screening v0.0 | EFL1 |
Zornitza Stark gene: EFL1 was added gene: EFL1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941 |
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| BabyScreen+ newborn screening v0.0 | EDNRB |
Zornitza Stark gene: EDNRB was added gene: EDNRB was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDNRB were set to Waardenburg syndrome, type 4A, MIM# 277580 |
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| BabyScreen+ newborn screening v0.0 | EDN3 |
Zornitza Stark gene: EDN3 was added gene: EDN3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: EDN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDN3 were set to Waardenburg syndrome |
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| BabyScreen+ newborn screening v0.0 | EDARADD |
Zornitza Stark gene: EDARADD was added gene: EDARADD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic |
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| BabyScreen+ newborn screening v0.0 | EDAR |
Zornitza Stark gene: EDAR was added gene: EDAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic |
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| BabyScreen+ newborn screening v0.0 | EDA |
Zornitza Stark gene: EDA was added gene: EDA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic |
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| BabyScreen+ newborn screening v0.0 | DYSF |
Zornitza Stark gene: DYSF was added gene: DYSF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B |
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| BabyScreen+ newborn screening v0.0 | DUOXA2 |
Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis 5, MIM# 274900 |
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| BabyScreen+ newborn screening v0.0 | DUOX2 |
Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis |
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| BabyScreen+ newborn screening v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis , MIM#615821 |
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| BabyScreen+ newborn screening v0.0 | DPAGT1 |
Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij, MIM#614750 |
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| BabyScreen+ newborn screening v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 30653653; 22242004; 23890587; 17273964; 28816422; 24144945 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, MIM# 610768; DK1-CDG, MONDO:0012556 |
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| BabyScreen+ newborn screening v0.0 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome, MIM# 254300 |
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| BabyScreen+ newborn screening v0.0 | DOCK8 |
Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category A gene,BegniNGS Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome, MIM#243700 |
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| BabyScreen+ newborn screening v0.0 | DNMT3B |
Zornitza Stark gene: DNMT3B was added gene: DNMT3B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
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| BabyScreen+ newborn screening v0.0 | DNM2 |
Zornitza Stark gene: DNM2 was added gene: DNM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal, type 2M; Myopathy, centronuclear |
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| BabyScreen+ newborn screening v0.0 | DNAJB6 |
Zornitza Stark gene: DNAJB6 was added gene: DNAJB6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle |
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| BabyScreen+ newborn screening v0.0 | DNAI1 |
Zornitza Stark gene: DNAI1 was added gene: DNAI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAH5 |
Zornitza Stark gene: DNAH5 was added gene: DNAH5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAH11 |
Zornitza Stark gene: DNAH11 was added gene: DNAH11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DNAAF1 |
Zornitza Stark gene: DNAAF1 was added gene: DNAAF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | DMXL2 |
Zornitza Stark gene: DMXL2 was added gene: DMXL2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663 |
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| BabyScreen+ newborn screening v0.0 | DMPK |
Zornitza Stark gene: DMPK was added gene: DMPK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DMPK were set to Myotonic dystrophy 1 |
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| BabyScreen+ newborn screening v0.0 | DMP1 |
Zornitza Stark gene: DMP1 was added gene: DMP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR |
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| BabyScreen+ newborn screening v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, MIM# 310200 |
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| BabyScreen+ newborn screening v0.0 | DLL3 |
Zornitza Stark gene: DLL3 was added gene: DLL3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1 |
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| BabyScreen+ newborn screening v0.0 | DLD |
Zornitza Stark gene: DLD was added gene: DLD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to Maple syrup urine disease, type III, MIM#246900 |
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| BabyScreen+ newborn screening v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, MIM# 305000 |
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| BabyScreen+ newborn screening v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 |
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| BabyScreen+ newborn screening v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome |
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| BabyScreen+ newborn screening v0.0 | DGUOK |
Zornitza Stark gene: DGUOK was added gene: DGUOK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome |
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| BabyScreen+ newborn screening v0.0 | DGAT1 |
Zornitza Stark gene: DGAT1 was added gene: DGAT1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGAT1 were set to Diarrhea 7, protein-losing enteropathy type , MIM# 615863 |
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| BabyScreen+ newborn screening v0.0 | DFNB59 |
Zornitza Stark gene: DFNB59 was added gene: DFNB59 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DFNB59 were set to Hearing loss |
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| BabyScreen+ newborn screening v0.0 | DFNA5 |
Zornitza Stark gene: DFNA5 was added gene: DFNA5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DFNA5 were set to Hearing loss |
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| BabyScreen+ newborn screening v0.0 | DDC |
Zornitza Stark gene: DDC was added gene: DDC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM#608643 |
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| BabyScreen+ newborn screening v0.0 | DDB2 |
Zornitza Stark gene: DDB2 was added gene: DDB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum |
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| BabyScreen+ newborn screening v0.0 | DCX |
Zornitza Stark gene: DCX was added gene: DCX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DCX were set to Lissencephaly, X-linked, MIM# 300067 |
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| BabyScreen+ newborn screening v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, MIM#603554 |
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| BabyScreen+ newborn screening v0.0 | DBT |
Zornitza Stark gene: DBT was added gene: DBT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to Maple syrup urine disease, MIM#248600 |
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| BabyScreen+ newborn screening v0.0 | D2HGDH |
Zornitza Stark gene: D2HGDH was added gene: D2HGDH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria |
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| BabyScreen+ newborn screening v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | CYP27B1 |
Zornitza Stark gene: CYP27B1 was added gene: CYP27B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I |
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| BabyScreen+ newborn screening v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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| BabyScreen+ newborn screening v0.0 | CYP21A2 |
Zornitza Stark gene: CYP21A2 was added gene: CYP21A2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910 |
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| BabyScreen+ newborn screening v0.0 | CYP17A1 |
Zornitza Stark gene: CYP17A1 was added gene: CYP17A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated , MIM#202110 |
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| BabyScreen+ newborn screening v0.0 | CYP11B2 |
Zornitza Stark gene: CYP11B2 was added gene: CYP11B2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400; Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600 |
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| BabyScreen+ newborn screening v0.0 | CYP11B1 |
Zornitza Stark gene: CYP11B1 was added gene: CYP11B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 |
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| BabyScreen+ newborn screening v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743 |
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| BabyScreen+ newborn screening v0.0 | CYBB |
Zornitza Stark gene: CYBB was added gene: CYBB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CYBB were set to Chronic granulomatous disease, MIM#306400 |
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| BabyScreen+ newborn screening v0.0 | CYBA |
Zornitza Stark gene: CYBA was added gene: CYBA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYBA were set to Chronic granulomatous disease, MIM#233690 |
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| BabyScreen+ newborn screening v0.0 | CXCR4 |
Zornitza Stark gene: CXCR4 was added gene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM# 193670 |
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| BabyScreen+ newborn screening v0.0 | CUL7 |
Zornitza Stark gene: CUL7 was added gene: CUL7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M syndrome |
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| BabyScreen+ newborn screening v0.0 | CUBN |
Zornitza Stark gene: CUBN was added gene: CUBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUBN were set to Megaloblastic anaemia-1, Finnish type, MIM#261100 |
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| BabyScreen+ newborn screening v0.0 | CTSK |
Zornitza Stark gene: CTSK was added gene: CTSK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis |
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| BabyScreen+ newborn screening v0.0 | CTSD |
Zornitza Stark gene: CTSD was added gene: CTSD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10 |
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| BabyScreen+ newborn screening v0.0 | CTPS1 |
Zornitza Stark gene: CTPS1 was added gene: CTPS1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, MIM# 615897 |
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| BabyScreen+ newborn screening v0.0 | CTNS |
Zornitza Stark gene: CTNS was added gene: CTNS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis |
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| BabyScreen+ newborn screening v0.0 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to Coats plus syndrome |
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| BabyScreen+ newborn screening v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A |
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| BabyScreen+ newborn screening v0.0 | CSF3R |
Zornitza Stark gene: CSF3R was added gene: CSF3R was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CSF3R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014; Neutrophilia, hereditary , MIM# 162830 |
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| BabyScreen+ newborn screening v0.0 | CSF2RA |
Zornitza Stark gene: CSF2RA was added gene: CSF2RA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CSF2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF2RA were set to 25425184; 18955570; 20622029 Phenotypes for gene: CSF2RA were set to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 |
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| BabyScreen+ newborn screening v0.0 | CRTAP |
Zornitza Stark gene: CRTAP was added gene: CRTAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII |
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| BabyScreen+ newborn screening v0.0 | CRLF1 |
Zornitza Stark gene: CRLF1 was added gene: CRLF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLF1 were set to Crisponi syndrome |
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| BabyScreen+ newborn screening v0.0 | CREBBP |
Zornitza Stark gene: CREBBP was added gene: CREBBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome |
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| BabyScreen+ newborn screening v0.0 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency |
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| BabyScreen+ newborn screening v0.0 | CPT1A |
Zornitza Stark gene: CPT1A was added gene: CPT1A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency, MIM#255120 |
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| BabyScreen+ newborn screening v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, MIM#237300 |
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| BabyScreen+ newborn screening v0.0 | CPOX |
Zornitza Stark gene: CPOX was added gene: CPOX was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CPOX were set to Coproporphyria , MIM#121300 |
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| BabyScreen+ newborn screening v0.0 | COQ9 |
Zornitza Stark gene: COQ9 was added gene: COQ9 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 , MIM#614654 |
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| BabyScreen+ newborn screening v0.0 | COQ8B |
Zornitza Stark gene: COQ8B was added gene: COQ8B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM# 615573 |
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| BabyScreen+ newborn screening v0.0 | COQ8A |
Zornitza Stark gene: COQ8A was added gene: COQ8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM# 612016 |
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| BabyScreen+ newborn screening v0.0 | COQ7 |
Zornitza Stark gene: COQ7 was added gene: COQ7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM# 616733 |
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| BabyScreen+ newborn screening v0.0 | COQ6 |
Zornitza Stark gene: COQ6 was added gene: COQ6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, MIM# 614650 |
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| BabyScreen+ newborn screening v0.0 | COQ4 |
Zornitza Stark gene: COQ4 was added gene: COQ4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276 |
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| BabyScreen+ newborn screening v0.0 | COQ2 |
Zornitza Stark gene: COQ2 was added gene: COQ2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM# 607426 |
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| BabyScreen+ newborn screening v0.0 | COLQ |
Zornitza Stark gene: COLQ was added gene: COLQ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome, MIM#603034 |
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| BabyScreen+ newborn screening v0.0 | COL9A3 |
Zornitza Stark gene: COL9A3 was added gene: COL9A3 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A3 were set to Stickler syndrome |
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| BabyScreen+ newborn screening v0.0 | COL9A2 |
Zornitza Stark gene: COL9A2 was added gene: COL9A2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284 |
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| BabyScreen+ newborn screening v0.0 | COL9A1 |
Zornitza Stark gene: COL9A1 was added gene: COL9A1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134 |
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| BabyScreen+ newborn screening v0.0 | COL7A1 |
Zornitza Stark gene: COL7A1 was added gene: COL7A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica |
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| BabyScreen+ newborn screening v0.0 | COL6A3 |
Zornitza Stark gene: COL6A3 was added gene: COL6A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy |
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| BabyScreen+ newborn screening v0.0 | COL6A2 |
Zornitza Stark gene: COL6A2 was added gene: COL6A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy |
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| BabyScreen+ newborn screening v0.0 | COL6A1 |
Zornitza Stark gene: COL6A1 was added gene: COL6A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy |
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| BabyScreen+ newborn screening v0.0 | COL5A2 |
Zornitza Stark gene: COL5A2 was added gene: COL5A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome |
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| BabyScreen+ newborn screening v0.0 | COL5A1 |
Zornitza Stark gene: COL5A1 was added gene: COL5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I |
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| BabyScreen+ newborn screening v0.0 | COL4A5 |
Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COL4A5 were set to Alport syndrome |
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| BabyScreen+ newborn screening v0.0 | COL4A4 |
Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome |
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| BabyScreen+ newborn screening v0.0 | COL4A3 |
Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A3 were set to Alport syndrome |
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| BabyScreen+ newborn screening v0.0 | COL3A1 |
Zornitza Stark gene: COL3A1 was added gene: COL3A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV |
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| BabyScreen+ newborn screening v0.0 | COL2A1 |
Zornitza Stark gene: COL2A1 was added gene: COL2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL2A1 were set to Stickler syndrome |
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| BabyScreen+ newborn screening v0.0 | COL1A2 |
Zornitza Stark gene: COL1A2 was added gene: COL1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II |
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| BabyScreen+ newborn screening v0.0 | COL1A1 |
Zornitza Stark gene: COL1A1 was added gene: COL1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I |
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| BabyScreen+ newborn screening v0.0 | COL17A1 |
Zornitza Stark gene: COL17A1 was added gene: COL17A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type |
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| BabyScreen+ newborn screening v0.0 | COL13A1 |
Zornitza Stark gene: COL13A1 was added gene: COL13A1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, MIM# 616720 |
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| BabyScreen+ newborn screening v0.0 | COL11A2 |
Zornitza Stark gene: COL11A2 was added gene: COL11A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | COL11A1 |
Zornitza Stark gene: COL11A1 was added gene: COL11A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL11A1 were set to Stickler syndrome |
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| BabyScreen+ newborn screening v0.0 | COG5 |
Zornitza Stark gene: COG5 was added gene: COG5 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG5 were set to 32174980; 23228021; 31572517 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi |
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| BabyScreen+ newborn screening v0.0 | COCH |
Zornitza Stark gene: COCH was added gene: COCH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: COCH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COCH were set to 21046548; 26256111; 9806553; 16151338; 28099493; 22931125; 18312449; 28116169; 28733840; 17561763; 18697796; 32562050; 29449721; 32939038; 22610276 Phenotypes for gene: COCH were set to Deafness, autosomal dominant 9, MIM# 601369; Deafness, autosomal recessive 110, MIM# 618094 |
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| BabyScreen+ newborn screening v0.0 | CNGB3 |
Zornitza Stark gene: CNGB3 was added gene: CNGB3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNGB3 were set to Achromatopsia-3 |
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| BabyScreen+ newborn screening v0.0 | CLRN1 |
Zornitza Stark gene: CLRN1 was added gene: CLRN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A |
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| BabyScreen+ newborn screening v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129 |
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| BabyScreen+ newborn screening v0.0 | CLN8 |
Zornitza Stark gene: CLN8 was added gene: CLN8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 |
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| BabyScreen+ newborn screening v0.0 | CLN6 |
Zornitza Stark gene: CLN6 was added gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 |
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| BabyScreen+ newborn screening v0.0 | CLN5 |
Zornitza Stark gene: CLN5 was added gene: CLN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5 |
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| BabyScreen+ newborn screening v0.0 | CLN3 |
Zornitza Stark gene: CLN3 was added gene: CLN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3 |
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| BabyScreen+ newborn screening v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement |
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| BabyScreen+ newborn screening v0.0 | CLDN14 |
Zornitza Stark gene: CLDN14 was added gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | CLCN7 |
Zornitza Stark gene: CLCN7 was added gene: CLCN7 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, MIM# 611490 |
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| BabyScreen+ newborn screening v0.0 | CLCN5 |
Zornitza Stark gene: CLCN5 was added gene: CLCN5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Dent disease |
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| BabyScreen+ newborn screening v0.0 | CIB2 |
Zornitza Stark gene: CIB2 was added gene: CIB2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 27344577; 26473954; 26445815; 23023331; 26173970; 26226137 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439 |
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| BabyScreen+ newborn screening v0.0 | CHRNG |
Zornitza Stark gene: CHRNG was added gene: CHRNG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to Pterygium syndrome |
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| BabyScreen+ newborn screening v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809 |
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| BabyScreen+ newborn screening v0.0 | CHRND |
Zornitza Stark gene: CHRND was added gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321 |
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| BabyScreen+ newborn screening v0.0 | CHRNB1 |
Zornitza Stark gene: CHRNB1 was added gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 |
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| BabyScreen+ newborn screening v0.0 | CHRNA1 |
Zornitza Stark gene: CHRNA1 was added gene: CHRNA1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome, MIM#601462 |
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| BabyScreen+ newborn screening v0.0 | CHM |
Zornitza Stark gene: CHM was added gene: CHM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHM were set to Choroideremia |
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| BabyScreen+ newborn screening v0.0 | CHKB |
Zornitza Stark gene: CHKB was added gene: CHKB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type |
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| BabyScreen+ newborn screening v0.0 | CHD7 |
Zornitza Stark gene: CHD7 was added gene: CHD7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD7 were set to CHARGE syndrome |
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| BabyScreen+ newborn screening v0.0 | CHD2 |
Zornitza Stark gene: CHD2 was added gene: CHD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy |
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| BabyScreen+ newborn screening v0.0 | CHAT |
Zornitza Stark gene: CHAT was added gene: CHAT was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome, MIM#254210 |
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| BabyScreen+ newborn screening v0.0 | CFTR |
Zornitza Stark gene: CFTR was added gene: CFTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Cystic fibrosis, MIM#219700 |
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| BabyScreen+ newborn screening v0.0 | CFP |
Zornitza Stark gene: CFP was added gene: CFP was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, MIM#312060 |
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| BabyScreen+ newborn screening v0.0 | CFD |
Zornitza Stark gene: CFD was added gene: CFD was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFD were set to Complement factor D deficiency, MIM# 613912 |
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| BabyScreen+ newborn screening v0.0 | CFB |
Zornitza Stark gene: CFB was added gene: CFB was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFB were set to Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924 |
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| BabyScreen+ newborn screening v0.0 | CFL2 |
Zornitza Stark gene: CFL2 was added gene: CFL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to Nemaline myopathy |
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| BabyScreen+ newborn screening v0.0 | CFC1 |
Zornitza Stark gene: CFC1 was added gene: CFC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CFC1 were set to Congenital heart defects |
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| BabyScreen+ newborn screening v0.0 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 33938610; 24882706 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy |
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| BabyScreen+ newborn screening v0.0 | CEP78 |
Zornitza Stark gene: CEP78 was added gene: CEP78 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss |
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| BabyScreen+ newborn screening v0.0 | CEP290 |
Zornitza Stark gene: CEP290 was added gene: CEP290 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome |
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| BabyScreen+ newborn screening v0.0 | CEP152 |
Zornitza Stark gene: CEP152 was added gene: CEP152 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP152 were set to Seckel syndrome |
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| BabyScreen+ newborn screening v0.0 | CDT1 |
Zornitza Stark gene: CDT1 was added gene: CDT1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDT1 were set to 22333897; 21358632; 21358631; 33338304 Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431 |
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| BabyScreen+ newborn screening v0.0 | CDSN |
Zornitza Stark gene: CDSN was added gene: CDSN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDSN were set to Hypotrichosis |
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| BabyScreen+ newborn screening v0.0 | CDKN1C |
Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MIM#130650 |
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| BabyScreen+ newborn screening v0.0 | CDKL5 |
Zornitza Stark gene: CDKL5 was added gene: CDKL5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2 |
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| BabyScreen+ newborn screening v0.0 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488 |
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| BabyScreen+ newborn screening v0.0 | CDH23 |
Zornitza Stark gene: CDH23 was added gene: CDH23 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive; Usher syndrome, type 1D |
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| BabyScreen+ newborn screening v0.0 | CDC14A |
Zornitza Stark gene: CDC14A was added gene: CDC14A was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 |
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| BabyScreen+ newborn screening v0.0 | CDAN1 |
Zornitza Stark gene: CDAN1 was added gene: CDAN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I |
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| BabyScreen+ newborn screening v0.0 | CD79B |
Zornitza Stark gene: CD79B was added gene: CD79B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD79B were set to Agammaglobulinaemia 6, MIM# 612692 |
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| BabyScreen+ newborn screening v0.0 | CD79A |
Zornitza Stark gene: CD79A was added gene: CD79A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD79A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD79A were set to Agammaglobulinaemia 3, MIM# 613501 |
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| BabyScreen+ newborn screening v0.0 | CD40LG |
Zornitza Stark gene: CD40LG was added gene: CD40LG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM |
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| BabyScreen+ newborn screening v0.0 | CD3E |
Zornitza Stark gene: CD3E was added gene: CD3E was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CD3E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3E were set to Immunodeficiency 18, MIM# 615615 |
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| BabyScreen+ newborn screening v0.0 | CD3D |
Zornitza Stark gene: CD3D was added gene: CD3D was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD3D were set to Immunodeficiency 19, MIM# 615617 |
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| BabyScreen+ newborn screening v0.0 | CCDC40 |
Zornitza Stark gene: CCDC40 was added gene: CCDC40 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CCDC39 |
Zornitza Stark gene: CCDC39 was added gene: CCDC39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | CC2D2A |
Zornitza Stark gene: CC2D2A was added gene: CC2D2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome |
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| BabyScreen+ newborn screening v0.0 | CBS |
Zornitza Stark gene: CBS was added gene: CBS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types |
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| BabyScreen+ newborn screening v0.0 | GIF |
Zornitza Stark gene: GIF was added gene: GIF was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency, MIM# 261000 |
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| BabyScreen+ newborn screening v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia |
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| BabyScreen+ newborn screening v0.0 | CAVIN1 |
Zornitza Stark gene: CAVIN1 was added gene: CAVIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 |
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| BabyScreen+ newborn screening v0.0 | CAV3 |
Zornitza Stark gene: CAV3 was added gene: CAV3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAV3 were set to Caveolinopathy; Muscular dystrophy, limb-girdle, type IC |
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| BabyScreen+ newborn screening v0.0 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200 |
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| BabyScreen+ newborn screening v0.0 | CASQ2 |
Zornitza Stark gene: CASQ2 was added gene: CASQ2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic |
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| BabyScreen+ newborn screening v0.0 | CASK |
Zornitza Stark gene: CASK was added gene: CASK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
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| BabyScreen+ newborn screening v0.0 | CARD11 |
Zornitza Stark gene: CARD11 was added gene: CARD11 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 23374270; 28628108; 23561803; 12818158 Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206 |
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| BabyScreen+ newborn screening v0.0 | CAPN3 |
Zornitza Stark gene: CAPN3 was added gene: CAPN3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A |
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| BabyScreen+ newborn screening v0.0 | CACNA1F |
Zornitza Stark gene: CACNA1F was added gene: CACNA1F was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked |
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| BabyScreen+ newborn screening v0.0 | CACNA1D |
Zornitza Stark gene: CACNA1D was added gene: CACNA1D was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 |
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| BabyScreen+ newborn screening v0.0 | CACNA1C |
Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1C were set to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 |
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| BabyScreen+ newborn screening v0.0 | CACNA1A |
Zornitza Stark gene: CACNA1A was added gene: CACNA1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2 |
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| BabyScreen+ newborn screening v0.0 | CABP2 |
Zornitza Stark gene: CABP2 was added gene: CABP2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899 |
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| BabyScreen+ newborn screening v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
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| BabyScreen+ newborn screening v0.0 | CA5A |
Zornitza Stark gene: CA5A was added gene: CA5A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA5A were set to Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751 |
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| BabyScreen+ newborn screening v0.0 | C9 |
Zornitza Stark gene: C9 was added gene: C9 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C9 were set to C9 deficiency, MIM# 613825 |
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| BabyScreen+ newborn screening v0.0 | C8B |
Zornitza Stark gene: C8B was added gene: C8B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8B were set to C8 deficiency, type II, MIM# 613789 |
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| BabyScreen+ newborn screening v0.0 | C8A |
Zornitza Stark gene: C8A was added gene: C8A was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8A were set to C8 deficiency, type I, MIM# 613790 |
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| BabyScreen+ newborn screening v0.0 | C7 |
Zornitza Stark gene: C7 was added gene: C7 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C7 were set to C7 deficiency, MIM# 610102 |
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| BabyScreen+ newborn screening v0.0 | C6 |
Zornitza Stark gene: C6 was added gene: C6 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C6 were set to C6 deficiency, MIM# 612446 |
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| BabyScreen+ newborn screening v0.0 | C5 |
Zornitza Stark gene: C5 was added gene: C5 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5 were set to C5 deficiency, MIM# 609536 |
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| BabyScreen+ newborn screening v0.0 | C3 |
Zornitza Stark gene: C3 was added gene: C3 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C3 were set to C3 deficiency, MIM# 613779 |
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| BabyScreen+ newborn screening v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, MIM#300755 |
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| BabyScreen+ newborn screening v0.0 | BTD |
Zornitza Stark gene: BTD was added gene: BTD was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BTD were set to Biotinidase deficiency, MIM#253260 |
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| BabyScreen+ newborn screening v0.0 | BSND |
Zornitza Stark gene: BSND was added gene: BSND was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness |
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| BabyScreen+ newborn screening v0.0 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, MIM# 269700; Berardinelli-Seip lipodystrophy |
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| BabyScreen+ newborn screening v0.0 | BRIP1 |
Zornitza Stark gene: BRIP1 was added gene: BRIP1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRIP1 were set to Fanconi anaemia, complementation group J, MIM# 609054 |
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| BabyScreen+ newborn screening v0.0 | BRCA2 |
Zornitza Stark gene: BRCA2 was added gene: BRCA2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to Fanconi anaemia, complementation group D, MIM#1 605724 |
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| BabyScreen+ newborn screening v0.0 | BRAF |
Zornitza Stark gene: BRAF was added gene: BRAF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome, MIM# 115150; Noonan syndrome 7, MIM# 613706 |
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| BabyScreen+ newborn screening v0.0 | BMPR1A |
Zornitza Stark gene: BMPR1A was added gene: BMPR1A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900 |
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| BabyScreen+ newborn screening v0.0 | BLNK |
Zornitza Stark gene: BLNK was added gene: BLNK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLNK were set to Agammaglobulinaemia 4, MIM#613502 |
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| BabyScreen+ newborn screening v0.0 | BLM |
Zornitza Stark gene: BLM was added gene: BLM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom syndrome |
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| BabyScreen+ newborn screening v0.0 | BIN1 |
Zornitza Stark gene: BIN1 was added gene: BIN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | BICD2 |
Zornitza Stark gene: BICD2 was added gene: BICD2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy |
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| BabyScreen+ newborn screening v0.0 | BCS1L |
Zornitza Stark gene: BCS1L was added gene: BCS1L was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Complex 3 deficiency |
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| BabyScreen+ newborn screening v0.0 | BCKDK |
Zornitza Stark gene: BCKDK was added gene: BCKDK was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDK were set to Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923 |
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| BabyScreen+ newborn screening v0.0 | BCKDHB |
Zornitza Stark gene: BCKDHB was added gene: BCKDHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHB were set to Maple syrup urine disease |
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| BabyScreen+ newborn screening v0.0 | BCKDHA |
Zornitza Stark gene: BCKDHA was added gene: BCKDHA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHA were set to Maple syrup urine disease |
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| BabyScreen+ newborn screening v0.0 | BCHE |
Zornitza Stark gene: BCHE was added gene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936 |
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| BabyScreen+ newborn screening v0.0 | BBS9 |
Zornitza Stark gene: BBS9 was added gene: BBS9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS7 |
Zornitza Stark gene: BBS7 was added gene: BBS7 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS5 |
Zornitza Stark gene: BBS5 was added gene: BBS5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS4 |
Zornitza Stark gene: BBS4 was added gene: BBS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS2 |
Zornitza Stark gene: BBS2 was added gene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS12 |
Zornitza Stark gene: BBS12 was added gene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS10 |
Zornitza Stark gene: BBS10 was added gene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BBS1 |
Zornitza Stark gene: BBS1 was added gene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome |
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| BabyScreen+ newborn screening v0.0 | BAAT |
Zornitza Stark gene: BAAT was added gene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BAAT were set to Bile acid amidation defect |
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| BabyScreen+ newborn screening v0.0 | B3GLCT |
Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GLCT were set to Peters-Plus syndrome |
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| BabyScreen+ newborn screening v0.0 | AVPR2 |
Zornitza Stark gene: AVPR2 was added gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic, MIM#304800 |
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| BabyScreen+ newborn screening v0.0 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I |
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| BabyScreen+ newborn screening v0.0 | ATRX |
Zornitza Stark gene: ATRX was added gene: ATRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome |
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| BabyScreen+ newborn screening v0.0 | ATP8B1 |
Zornitza Stark gene: ATP8B1 was added gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 |
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| BabyScreen+ newborn screening v0.0 | ATP7B |
Zornitza Stark gene: ATP7B was added gene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP7B were set to Wilson disease |
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| BabyScreen+ newborn screening v0.0 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Menkes disease, MIM# 309400 |
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| BabyScreen+ newborn screening v0.0 | ATP6V1B1 |
Zornitza Stark gene: ATP6V1B1 was added gene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss, MIM#267300 |
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| BabyScreen+ newborn screening v0.0 | ATP6V0A4 |
Zornitza Stark gene: ATP6V0A4 was added gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722 |
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| BabyScreen+ newborn screening v0.0 | ATP6V0A2 |
Zornitza Stark gene: ATP6V0A2 was added gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA |
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| BabyScreen+ newborn screening v0.0 | ATP2B2 |
Zornitza Stark gene: ATP2B2 was added gene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset |
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| BabyScreen+ newborn screening v0.0 | ATP2A1 |
Zornitza Stark gene: ATP2A1 was added gene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP2A1 were set to Brody myopathy |
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| BabyScreen+ newborn screening v0.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine |
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| BabyScreen+ newborn screening v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-telangiectasia |
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| BabyScreen+ newborn screening v0.0 | ASS1 |
Zornitza Stark gene: ASS1 was added gene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700 |
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| BabyScreen+ newborn screening v0.0 | ASPA |
Zornitza Stark gene: ASPA was added gene: ASPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to Canavan disease |
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| BabyScreen+ newborn screening v0.0 | ASL |
Zornitza Stark gene: ASL was added gene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900 |
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| BabyScreen+ newborn screening v0.0 | ARX |
Zornitza Stark gene: ARX was added gene: ARX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2 |
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| BabyScreen+ newborn screening v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) |
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| BabyScreen+ newborn screening v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy |
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| BabyScreen+ newborn screening v0.0 | ARPC1B |
Zornitza Stark gene: ARPC1B was added gene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718 |
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| BabyScreen+ newborn screening v0.0 | ARMC4 |
Zornitza Stark gene: ARMC4 was added gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia |
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| BabyScreen+ newborn screening v0.0 | ARID1B |
Zornitza Stark gene: ARID1B was added gene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome |
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| BabyScreen+ newborn screening v0.0 | ARG1 |
Zornitza Stark gene: ARG1 was added gene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800 |
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| BabyScreen+ newborn screening v0.0 | ARFGEF2 |
Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly |
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| BabyScreen+ newborn screening v0.0 | AR |
Zornitza Stark gene: AR was added gene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to Androgen insensitivity, MIM# 300068 |
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| BabyScreen+ newborn screening v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
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| BabyScreen+ newborn screening v0.0 | APRT |
Zornitza Stark gene: APRT was added gene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM# 614723 |
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| BabyScreen+ newborn screening v0.0 | AQP2 |
Zornitza Stark gene: AQP2 was added gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800 |
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| BabyScreen+ newborn screening v0.0 | APOB |
Zornitza Stark gene: APOB was added gene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Apolipoprotein B deficiency |
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| BabyScreen+ newborn screening v0.0 | APC |
Zornitza Stark gene: APC was added gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to Adenomatous polyposis coli; Adenomatous polyposis coli, attenuated |
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| BabyScreen+ newborn screening v0.0 | AP4M1 |
Zornitza Stark gene: AP4M1 was added gene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665 Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM# 612936 |
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| BabyScreen+ newborn screening v0.0 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 |
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| BabyScreen+ newborn screening v0.0 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 |
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| BabyScreen+ newborn screening v0.0 | AP3B1 |
Zornitza Stark gene: AP3B1 was added gene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 |
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| BabyScreen+ newborn screening v0.0 | ANTXR2 |
Zornitza Stark gene: ANTXR2 was added gene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome |
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| BabyScreen+ newborn screening v0.0 | ANO10 |
Zornitza Stark gene: ANO10 was added gene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10 |
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| BabyScreen+ newborn screening v0.0 | ANKRD26 |
Zornitza Stark gene: ANKRD26 was added gene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2 |
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| BabyScreen+ newborn screening v0.0 | ANKH |
Zornitza Stark gene: ANKH was added gene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | ANK2 |
Zornitza Stark gene: ANK2 was added gene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038 |
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| BabyScreen+ newborn screening v0.0 | ANK1 |
Zornitza Stark gene: ANK1 was added gene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK1 were set to Spherocytosis |
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| BabyScreen+ newborn screening v0.0 | AMT |
Zornitza Stark gene: AMT was added gene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic |
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| BabyScreen+ newborn screening v0.0 | AMN |
Zornitza Stark gene: AMN was added gene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#618882 |
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| BabyScreen+ newborn screening v0.0 | AMELX |
Zornitza Stark gene: AMELX was added gene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMELX were set to Amelogenesis imperfecta |
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| BabyScreen+ newborn screening v0.0 | ALX4 |
Zornitza Stark gene: ALX4 was added gene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALX4 were set to Parietal foramina 2 |
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| BabyScreen+ newborn screening v0.0 | ALS2 |
Zornitza Stark gene: ALS2 was added gene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis |
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| BabyScreen+ newborn screening v0.0 | ALPL |
Zornitza Stark gene: ALPL was added gene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500 |
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| BabyScreen+ newborn screening v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | ALOX12B |
Zornitza Stark gene: ALOX12B was added gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome |
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| BabyScreen+ newborn screening v0.0 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 26453364; 25966638; 28932688 Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776 |
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| BabyScreen+ newborn screening v0.0 | ALG8 |
Zornitza Stark gene: ALG8 was added gene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih |
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| BabyScreen+ newborn screening v0.0 | ALG6 |
Zornitza Stark gene: ALG6 was added gene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic |
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| BabyScreen+ newborn screening v0.0 | ALG3 |
Zornitza Stark gene: ALG3 was added gene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id |
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| BabyScreen+ newborn screening v0.0 | ALG14 |
Zornitza Stark gene: ALG14 was added gene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227 |
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| BabyScreen+ newborn screening v0.0 | ALG12 |
Zornitza Stark gene: ALG12 was added gene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig |
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| BabyScreen+ newborn screening v0.0 | ALG1 |
Zornitza Stark gene: ALG1 was added gene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik |
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| BabyScreen+ newborn screening v0.0 | ALDOB |
Zornitza Stark gene: ALDOB was added gene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to Fructose intolerance, MIM#229600 |
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| BabyScreen+ newborn screening v0.0 | ALDH7A1 |
Zornitza Stark gene: ALDH7A1 was added gene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100 |
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| BabyScreen+ newborn screening v0.0 | ALDH5A1 |
Zornitza Stark gene: ALDH5A1 was added gene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency |
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| BabyScreen+ newborn screening v0.0 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome |
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| BabyScreen+ newborn screening v0.0 | ALDH18A1 |
Zornitza Stark gene: ALDH18A1 was added gene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA |
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| BabyScreen+ newborn screening v0.0 | ALB |
Zornitza Stark gene: ALB was added gene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALB were set to Analbuminemia |
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| BabyScreen+ newborn screening v0.0 | ALAS2 |
Zornitza Stark gene: ALAS2 was added gene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked |
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| BabyScreen+ newborn screening v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 |
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| BabyScreen+ newborn screening v0.0 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500 |
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| BabyScreen+ newborn screening v0.0 | AIRE |
Zornitza Stark gene: AIRE was added gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
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| BabyScreen+ newborn screening v0.0 | AIFM1 |
Zornitza Stark gene: AIFM1 was added gene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to Cowchock syndrome |
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| BabyScreen+ newborn screening v0.0 | AHI1 |
Zornitza Stark gene: AHI1 was added gene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome-3 |
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| BabyScreen+ newborn screening v0.0 | AHCY |
Zornitza Stark gene: AHCY was added gene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752 |
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| BabyScreen+ newborn screening v0.0 | AGXT |
Zornitza Stark gene: AGXT was added gene: AGXT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1 |
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| BabyScreen+ newborn screening v0.0 | AGRN |
Zornitza Stark gene: AGRN was added gene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120 |
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| BabyScreen+ newborn screening v0.0 | AGL |
Zornitza Stark gene: AGL was added gene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400 |
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| BabyScreen+ newborn screening v0.0 | AGA |
Zornitza Stark gene: AGA was added gene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to Aspartylglucosaminuria |
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| BabyScreen+ newborn screening v0.0 | ADK |
Zornitza Stark gene: ADK was added gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency |
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| BabyScreen+ newborn screening v0.0 | ADGRV1 |
Zornitza Stark gene: ADGRV1 was added gene: ADGRV1 was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C |
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| BabyScreen+ newborn screening v0.0 | ADGRG1 |
Zornitza Stark gene: ADGRG1 was added gene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal |
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| BabyScreen+ newborn screening v0.0 | ADAR |
Zornitza Stark gene: ADAR was added gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria |
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| BabyScreen+ newborn screening v0.0 | ADAMTSL2 |
Zornitza Stark gene: ADAMTSL2 was added gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 |
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| BabyScreen+ newborn screening v0.0 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150 |
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| BabyScreen+ newborn screening v0.0 | ADA |
Zornitza Stark gene: ADA was added gene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency, MIM#102700 |
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| BabyScreen+ newborn screening v0.0 | ACVRL1 |
Zornitza Stark gene: ACVRL1 was added gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 |
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| BabyScreen+ newborn screening v0.0 | ACVR1 |
Zornitza Stark gene: ACVR1 was added gene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva |
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| BabyScreen+ newborn screening v0.0 | ACTN4 |
Zornitza Stark gene: ACTN4 was added gene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1 |
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| BabyScreen+ newborn screening v0.0 | ACTN1 |
Zornitza Stark gene: ACTN1 was added gene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia |
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| BabyScreen+ newborn screening v0.0 | ACTG2 |
Zornitza Stark gene: ACTG2 was added gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome |
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| BabyScreen+ newborn screening v0.0 | ACTG1 |
Zornitza Stark gene: ACTG1 was added gene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant |
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| BabyScreen+ newborn screening v0.0 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency |
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| BabyScreen+ newborn screening v0.0 | ACE |
Zornitza Stark gene: ACE was added gene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis |
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| BabyScreen+ newborn screening v0.0 | ACAT1 |
Zornitza Stark gene: ACAT1 was added gene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750 |
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| BabyScreen+ newborn screening v0.0 | ACADVL |
Zornitza Stark gene: ACADVL was added gene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VLCAD deficiency, MIM#201475 |
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| BabyScreen+ newborn screening v0.0 | ACADM |
Zornitza Stark gene: ACADM was added gene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency, MIM#201450 |
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| BabyScreen+ newborn screening v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 |
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| BabyScreen+ newborn screening v0.0 | ACAD8 |
Zornitza Stark gene: ACAD8 was added gene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency |
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| BabyScreen+ newborn screening v0.0 | ABCG5 |
Zornitza Stark gene: ABCG5 was added gene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCG5 were set to Sitosterolemia |
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| BabyScreen+ newborn screening v0.0 | ABCD4 |
Zornitza Stark gene: ABCD4 was added gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE |
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| BabyScreen+ newborn screening v0.0 | ABCD1 |
Zornitza Stark gene: ABCD1 was added gene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy |
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| BabyScreen+ newborn screening v0.0 | ABCC8 |
Zornitza Stark gene: ABCC8 was added gene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450 |
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| BabyScreen+ newborn screening v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473 |
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| BabyScreen+ newborn screening v0.0 | ABCC2 |
Zornitza Stark gene: ABCC2 was added gene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC2 were set to 11477083; 30344695 Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500 |
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| BabyScreen+ newborn screening v0.0 | ABCB4 |
Zornitza Stark gene: ABCB4 was added gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 |
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| BabyScreen+ newborn screening v0.0 | ABCB11 |
Zornitza Stark gene: ABCB11 was added gene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 |
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| BabyScreen+ newborn screening v0.0 | ABCA4 |
Zornitza Stark gene: ABCA4 was added gene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA4 were set to Stargardt disease |
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| BabyScreen+ newborn screening v0.0 | ABCA3 |
Zornitza Stark gene: ABCA3 was added gene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3 |
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| BabyScreen+ newborn screening v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive |
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| BabyScreen+ newborn screening v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease |
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| BabyScreen+ newborn screening v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome |
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| BabyScreen+ newborn screening v0.0 | Zornitza Stark Added panel gNBS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | GIF | Zornitza Stark Marked gene: GIF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | GIF | Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is CBLIF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | GIF | Zornitza Stark Gene: gif has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | GIF | Zornitza Stark Tag new gene name tag was added to gene: GIF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.232 | PTPA | Zornitza Stark Marked gene: PTPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.232 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.232 | PTPA | Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.232 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.231 | PTPA |
Zornitza Stark gene: PTPA was added gene: PTPA was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPA were set to 36073231 Phenotypes for gene: PTPA were set to Intellectual disability, MONDO: 36073231, PTPA-related; Parkisonism Review for gene: PTPA was set to AMBER Added comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below. There is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID. Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports. ------ Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants. These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation. Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies. Role of the gene: As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. Variant studies: Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt. Drosophila / animal models: Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment. Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. Sources: Literature |
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| Mendeliome v1.333 | PTPA | Zornitza Stark Marked gene: PTPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | PTPA | Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.333 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.332 | PTPA |
Zornitza Stark gene: PTPA was added gene: PTPA was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPA were set to 36073231 Phenotypes for gene: PTPA were set to Intellectual disability, MONDO: 36073231, PTPA-related Review for gene: PTPA was set to AMBER Added comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below. There is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID. Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports. ------ Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants. These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation. Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies. Role of the gene: As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. Variant studies: Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt. Drosophila / animal models: Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment. Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4941 | PTPA | Zornitza Stark Marked gene: PTPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4941 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4941 | PTPA | Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4941 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4940 | PTPA | Zornitza Stark Classified gene: PTPA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4940 | PTPA | Zornitza Stark Gene: ptpa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.91 | BMPER | Zornitza Stark Marked gene: BMPER as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.91 | BMPER | Zornitza Stark Gene: bmper has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.91 | BMPER | Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.90 | BMPER | Zornitza Stark Publications for gene: BMPER were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4939 | PTPA |
Konstantinos Varvagiannis changed review comment from: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below. There is currently no associated phenotype in OMIM, G2P, PanelApp Australia or SysID. Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports. ------ Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants. These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation. Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies. Role of the gene: As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. Variant studies: Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt. Drosophila / animal models: Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment. Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. Sources: Literature; to: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below. There is currently no associated phenotype in OMIM, G2P, PanelApp UK or SysID. Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports. ------ Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants. These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation. Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies. Role of the gene: As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. Variant studies: Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt. Drosophila / animal models: Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment. Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4939 | PTPA |
Konstantinos Varvagiannis gene: PTPA was added gene: PTPA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PTPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPA were set to 36073231 Phenotypes for gene: PTPA were set to Intellectual disability; Parkinsonism Penetrance for gene: PTPA were set to Complete Review for gene: PTPA was set to AMBER Added comment: Biallelic PTPA pathogenic variants lead to a form of ID with later-onset parkinsonism based on 4 individuals from 2 families in the literature. Affected individuals were homozygous for missense variants demonstrated to result to reduced mRNA and protein levels as well as PP2A complex activation. Drosophila studies support an age-dependent locomotor dysfunction. Variants in other PP2A-complex-related genes also lead to NDDs. Summary provided below. There is currently no associated phenotype in OMIM, G2P, PanelApp Australia or SysID. Consider inclusion in relevant panels (ID, Parkinsonism/movement disorders, etc) with amber rating pending further reports. ------ Fevga, Tesson et al (2022 - PMID: 36073231) describe the features of 4 individuals, from 2 unrelated families, with biallelic pathogenic PTPA variants. These presented with normal or delayed early milestones, learning disability and ID (mild to moderate) followed by progressive signs of parkinsonism (at the age of 11 yrs in 2 sibs, 15 yrs in another individual). Motor symptoms were responsive to levodopa and later to deep brain stimulation. Linkage analysis in one consanguineous family followed by exome revealed homozygosity for a missense PTPA variant (NM_178001:c.893T>G/p.Met298Arg). Exome sequencing in affected subjects from the 2nd family revealed homozygosity for a further missense variant (c.512C>A/p.Ala171Asp). There were no other candidate variants for the phenotype following parental / segregation studies. Role of the gene: As the authors discuss, PTPA (or PPP2R4) is ubiquitously expressed in all tissues incl. brain and encodes a phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase-2A (PP2A). PP2A in turn, is the major Ser/Thr phosphatase in brain targeting a large number of proteins involved in diverse functions. Activation of PP2A is dependent on its methylation, which is negatively regulated by the PP2A-specific methylesterase (PME-1). By binding to PME-1, PTPA counteracts the negative influence of the former on PP2A. Pathogenic variants in genes encoding subunits/regulators of the PP2A complex (e.g. PPP2R1A or PPP2CA) are associated with neurodevelopmental disorders. Variant studies: Upon overexpression of wt and both variants in a HEK-293 cell line the authors demonstrated that both variants resulted in significantly reduced mRNA and protein levels (which for Ala171Asp were attributed to increased proteasomal degradation). Both variants were shown to result in impaired PP2A complex activation compared to wt. Drosophila / animal models: Pan-neuronal RNAi-mediated knockdown of ptpa in Drosophila resulted in an age-dependent locomotor dysfunction, reversible with L-DOPA treatment. Previous studies in mice suggest cognitive/electrophysiological impairments upon downregulation of PP2A activity in transgenic mice. Sources: Literature |
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| Mendeliome v1.331 | PKHD1 | Zornitza Stark Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200; Nephrocalcinosis, MONDO:0001567, PKHD1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.330 | PKHD1 | Zornitza Stark Publications for gene: PKHD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.329 | PKHD1 | Zornitza Stark Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.328 | PKHD1 | Zornitza Stark edited their review of gene: PKHD1: Added comment: Notę heterozygous carriers reported to have liver cysts and nephrocalcinosis, gene-disease association considered MODERATE by ClinGen.; Changed publications: 28375157, 21945273; Changed phenotypes: Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200, Nephrocalcinosis, MONDO:0001567, PKHD1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.328 | PPP2R5C | Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.327 | PPP2R5C | Zornitza Stark Publications for gene: PPP2R5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.326 | PPP2R5C | Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.326 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.119 | PPP2R5C | Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.118 | PPP2R5C | Zornitza Stark Publications for gene: PPP2R5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.117 | PPP2R5C | Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.117 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Macrocephaly_Megalencephaly v0.116 | PPP2R5C | Zornitza Stark reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4939 | PPP2R5C | Zornitza Stark Phenotypes for gene: PPP2R5C were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4938 | PPP2R5C | Zornitza Stark Publications for gene: PPP2R5C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4937 | PPP2R5C | Zornitza Stark Classified gene: PPP2R5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4937 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.89 | BMPER | Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.88 | MMP9 | Zornitza Stark Classified gene: MMP9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.88 | MMP9 | Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.87 | MMP9 | Zornitza Stark changed review comment from: Relatively mild skeletal dysplasia, unsure if it would be apparent antenatally.; to: Relatively mild skeletal dysplasia, limited reports. However, at least one case report of antenatal presentation, PMID 36035187. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.87 | MMP9 | Zornitza Stark edited their review of gene: MMP9: Changed rating: GREEN; Changed publications: 36035187 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.87 | BMP1 | Zornitza Stark Marked gene: BMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.87 | BMP1 | Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.87 | BMP1 | Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.86 | BMP1 | Zornitza Stark Publications for gene: BMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.85 | BMP1 | Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.84 | ARSE |
Zornitza Stark changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL. Can present antenatally. |
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| Skeletal Dysplasia_Fetal v0.84 | ALPL |
Zornitza Stark changed review comment from: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).; to: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388). The severe infantile form is perinatal lethal. |
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| Skeletal Dysplasia_Fetal v0.84 | AGPS | Zornitza Stark Marked gene: AGPS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.84 | AGPS | Zornitza Stark Gene: agps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.84 | AGPS | Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.83 | AGPS | Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.82 | MMP13 | Zornitza Stark Phenotypes for gene: MMP13 were changed from Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400) to Metaphyseal anadysplasia 1 (MIM#602111) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.81 | MMP13 | Zornitza Stark Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.80 | MMP13 | Zornitza Stark Classified gene: MMP13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.80 | MMP13 | Zornitza Stark Gene: mmp13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.79 | MMP13 | Zornitza Stark reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1, MIM# 602111; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.207 | MPDU1 | Zornitza Stark Marked gene: MPDU1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.207 | MPDU1 | Zornitza Stark Gene: mpdu1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.207 | MPDU1 | Zornitza Stark Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If 609180 to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.206 | MPDU1 | Zornitza Stark Publications for gene: MPDU1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.205 | MPDU1 |
Zornitza Stark changed review comment from: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK.; to: More than 5 unrelated families reported. Prominent ichthyosis reported in some, in addition to neurological features including DD/ID, seizures, hypotonia. Some reported with features overlapping dystroglycanopathy, including raised CK. Listed in the skeletal nosology paper as a condition resembling storage diseases, occasional reports of severe short stature. |
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| Skeletal Dysplasia_Fetal v0.78 | MNX1 | Zornitza Stark Marked gene: MNX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.78 | MNX1 | Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.78 | MNX1 | Zornitza Stark Classified gene: MNX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.78 | MNX1 | Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.77 | MNX1 |
Zornitza Stark gene: MNX1 was added gene: MNX1 was added to Skeletal Dysplasia_Fetal. Sources: Expert Review Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MNX1 were set to 32571425; 33836786; 11528505 Phenotypes for gene: MNX1 were set to Currarino syndrome, MIM# 176450 Review for gene: MNX1 was set to GREEN Added comment: Well established gene-disease association. Sacral agenesis and associated abnormalities can be evident on antenatal ultrasound. Sources: Expert Review |
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| Skeletal Dysplasia_Fetal v0.76 | MMP9 | Zornitza Stark Marked gene: MMP9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.76 | MMP9 | Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.76 | MMP9 | Zornitza Stark Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2 - MIM# 613073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.75 | MMP9 | Zornitza Stark Publications for gene: MMP9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.74 | MMP9 | Zornitza Stark Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.73 | MMP9 | Zornitza Stark Classified gene: MMP9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.73 | MMP9 | Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4936 | PPP2R5C | Teresa Zhao reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.72 | MMP13 | Zornitza Stark Marked gene: MMP13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.72 | MMP13 | Zornitza Stark Gene: mmp13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.72 | MMP13 | Zornitza Stark Phenotypes for gene: MMP13 were changed from to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.325 | PPP2R5C |
Teresa Zhao changed review comment from: - ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability - PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth - VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability; to: - ClinVar: two de novo missense variants (p.E177K and p.H188R), one has been reported for intellectual disability - PMID 25972378: inframe del (T157del) found in a de novo individual with ID, facial asymmetry, conductive HL, overgrowth - VCGS proband: additional de novo missense variant (p.K299E) found in one individual with syndromic intellectual disability |
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| Skeletal Dysplasia_Fetal v0.71 | MMP13 | Zornitza Stark Publications for gene: MMP13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.325 | PPP2R5C | Teresa Zhao reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25972378; Phenotypes: Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.70 | MMP13 | Zornitza Stark Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.69 | MESP2 | Zornitza Stark Marked gene: MESP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.69 | MESP2 | Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.69 | MESP2 | Zornitza Stark Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.68 | MESP2 | Zornitza Stark Publications for gene: MESP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.67 | MESP2 | Zornitza Stark Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4936 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4936 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4936 | CACNA1C | Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4935 | CACNA1C | Zornitza Stark reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1664 | CACNA1C | Zornitza Stark Phenotypes for gene: CACNA1C were changed from Neurodevelopmental abnormalities and epilepsy, no OMIM# to Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1663 | CACNA1C | Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.4 | PKHD1 | Elena Savva commented on gene: PKHD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polycystic liver disease v1.4 | PKHD1 | Elena Savva Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.325 | MYH8 | Ain Roesley reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: None; Publications: 15590965, 17041932, 15282353; Phenotypes: Carney complex variant MIM#60883; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.69 | NODAL | Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.68 | NODAL | Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.68 | NODAL | Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.67 | NODAL |
Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad. The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED. A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance. Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987 |
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| Mendeliome v1.325 | NODAL | Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.324 | NODAL | Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.324 | NODAL | Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.323 | NODAL |
Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad. The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED. A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance. Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987 |
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| Holoprosencephaly and septo-optic dysplasia v1.6 | NODAL | Zornitza Stark commented on gene: NODAL: Predominantly associated with complex congenital heart disease (Amber), no evidence for association with major brain abnormalities. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.23 | NODAL | Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.22 | NODAL | Zornitza Stark Mode of inheritance for gene: NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.21 | NODAL | Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.21 | NODAL | Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v1.20 | NODAL | Zornitza Stark reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: None; Publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.264 | NODAL | Zornitza Stark Publications for gene: NODAL were set to 9354794; 19064609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.263 | NODAL | Zornitza Stark Classified gene: NODAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.263 | NODAL | Zornitza Stark Gene: nodal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.262 | NODAL |
Zornitza Stark edited their review of gene: NODAL: Added comment: NODAL is a good biological candidate for heterotaxy disorders, and this is supported by animal models. The gene is depleted for LoF variants in gnomad. The missense variants reported in PMIDs 9354794 and 19064609 are present at a high population frequency in gnomad, including some in homozygous case: their association with disease is DISPUTED. A total of at least 7 families reported with severe CHD and high impact variants (stop gain, frameshift and canonical splice site). However, almost invariably these were inherited from unaffected or questionably affected parents (e.g. self reports of heart murmur in childhood), raising questions about whether these variants contribute to disease under a monogenic or polygenic model and/or about penetrance. Discussed at GenCC on 13/9/2022 and agreed on MODERATE assessment.; Changed rating: AMBER; Changed publications: 9354794, 19064609, 29368431, 19933292, 11311163, 30293987 |
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| Hyperinsulinism v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Interstitial Lung Disease v0.351 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.53 | SLC16A1 | Bryony Thompson Marked gene: SLC16A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.53 | SLC16A1 | Bryony Thompson Gene: slc16a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.53 | SLC16A1 | Bryony Thompson Phenotypes for gene: SLC16A1 were changed from to Erythrocyte lactate transporter defect, MIM# 245340; Hyperinsulinemic hypoglycaemia, familial, 7, MIM# 610021; Monocarboxylate transporter 1 deficiency, MIM# 616095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.52 | SLC16A1 | Bryony Thompson Publications for gene: SLC16A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.51 | SLC16A1 | Bryony Thompson Mode of inheritance for gene: SLC16A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.50 | KCNJ11 | Bryony Thompson Marked gene: KCNJ11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.50 | KCNJ11 | Bryony Thompson Gene: kcnj11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.50 | KCNJ11 | Bryony Thompson Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.49 | KCNJ11 | Bryony Thompson Publications for gene: KCNJ11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.48 | KCNJ11 | Bryony Thompson Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.47 | HNF4A | Bryony Thompson Marked gene: HNF4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.47 | HNF4A | Bryony Thompson Gene: hnf4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.47 | HNF4A | Bryony Thompson Phenotypes for gene: HNF4A were changed from to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.46 | HNF4A | Bryony Thompson Publications for gene: HNF4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.45 | HNF4A | Bryony Thompson Mode of inheritance for gene: HNF4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.44 | HNF1A | Bryony Thompson Marked gene: HNF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.44 | HNF1A | Bryony Thompson Gene: hnf1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.44 | HNF1A | Bryony Thompson Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.43 | HNF1A | Bryony Thompson Publications for gene: HNF1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.42 | HNF1A | Bryony Thompson Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.41 | HADH | Bryony Thompson Marked gene: HADH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.41 | HADH | Bryony Thompson Gene: hadh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.41 | HADH | Bryony Thompson Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.40 | HADH | Bryony Thompson Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.39 | GLUD1 | Bryony Thompson Marked gene: GLUD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.39 | GLUD1 | Bryony Thompson Gene: glud1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.39 | GLUD1 | Bryony Thompson Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.38 | GLUD1 | Bryony Thompson Publications for gene: GLUD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.37 | GLUD1 | Bryony Thompson Mode of inheritance for gene: GLUD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.36 | ABCC8 | Bryony Thompson Marked gene: ABCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.36 | ABCC8 | Bryony Thompson Gene: abcc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.36 | ABCC8 | Bryony Thompson Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.35 | ABCC8 | Bryony Thompson Publications for gene: ABCC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.34 | ABCC8 | Bryony Thompson Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Marked gene: TAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Gene: tat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Classified gene: TAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.200 | TAT | Zornitza Stark Gene: tat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.199 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.198 | BTD | Zornitza Stark Classified gene: BTD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.198 | BTD | Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.197 | BTD | Zornitza Stark changed review comment from: Variable severity, but treatable disorder.; to: Variable severity, but treatable disorder. Difficult to predict phenotype from genotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.197 | BTD | Zornitza Stark edited their review of gene: BTD: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.197 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.196 | BTD | Zornitza Stark Classified gene: BTD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.196 | BTD | Zornitza Stark Gene: btd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | BTD | Zornitza Stark Tag for review was removed from gene: BTD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | BTD | Zornitza Stark changed review comment from: Variable severity, but treatable disorder. Consider genotype-phenotype correlation before final decision.; to: Variable severity, but treatable disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | BTD | Zornitza Stark edited their review of gene: BTD: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | PCDH19 | Zornitza Stark Marked gene: PCDH19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | PCDH19 | Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.195 | PCDH19 | Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.194 | PCDH19 | Zornitza Stark Classified gene: PCDH19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.194 | PCDH19 | Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | PCDH19 | Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#300088); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | RS1 | Zornitza Stark Tag for review was removed from gene: RS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | OAT | Zornitza Stark Tag for review was removed from gene: OAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | NR2E3 | Zornitza Stark Tag for review was removed from gene: NR2E3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | TAT | Zornitza Stark Tag for review was removed from gene: TAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | TAT | Zornitza Stark edited their review of gene: TAT: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | GP1BA | Zornitza Stark Marked gene: GP1BA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | GP1BA | Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Marked gene: HBA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Classified gene: HBA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.193 | HBA1 | Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.192 | HBA2 | Zornitza Stark Marked gene: HBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.192 | HBA2 | Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.192 | HBA2 | Zornitza Stark Mode of inheritance for gene: HBA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.191 | HBA2 | Zornitza Stark Classified gene: HBA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.191 | HBA2 | Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.190 | GP1BA | Zornitza Stark Classified gene: GP1BA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.190 | GP1BA | Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | GP1BA | Zornitza Stark Tag for review was removed from gene: GP1BA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | HBA2 | Zornitza Stark Tag for review was removed from gene: HBA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | HBA2 | Zornitza Stark reviewed gene: HBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | HBA1 | Zornitza Stark Tag for review was removed from gene: HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | HBA1 | Zornitza Stark reviewed gene: HBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | GP9 | Zornitza Stark Marked gene: GP9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | GP9 | Zornitza Stark Gene: gp9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | GP9 | Zornitza Stark Classified gene: GP9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.189 | GP9 | Zornitza Stark Gene: gp9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GP9 | Zornitza Stark Tag for review was removed from gene: GP9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GP9 | Zornitza Stark reviewed gene: GP9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type C (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GP1BA | Zornitza Stark reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GJB1 | Zornitza Stark Marked gene: GJB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | F11 | Zornitza Stark Marked gene: F11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | F11 | Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.188 | GJB1 | Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.187 | GJB1 | Zornitza Stark Classified gene: GJB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.187 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.186 | F11 | Zornitza Stark Phenotypes for gene: F11 were changed from Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416) to Factor XI deficiency, autosomal recessive, (MIM#612416) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.185 | GJB1 | Zornitza Stark Tag for review was removed from gene: GJB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.185 | GJB1 | Zornitza Stark edited their review of gene: GJB1: Added comment: Childhood onset, motor disability can be severe.; Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.185 | F11 | Zornitza Stark Classified gene: F11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.185 | F11 | Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.184 | F11 | Zornitza Stark Tag for review was removed from gene: F11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.184 | F11 | Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal recessive, (MIM#612416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.184 | Zornitza Stark removed gene:CYP19A1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.183 | GRHPR | Zornitza Stark Tag for review was removed from gene: GRHPR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.183 | Zornitza Stark removed gene:CYP11B1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.182 | IGHM | Zornitza Stark Classified gene: IGHM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.182 | IGHM | Zornitza Stark Gene: ighm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.181 | IGHM | Zornitza Stark changed review comment from: Workaround in place to detect variants in this gene.; to: Workaround possible to detect variants in this gene. However, residual risk of false negative results. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.181 | IGHM | Zornitza Stark edited their review of gene: IGHM: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.181 | F9 | Zornitza Stark Marked gene: F9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.181 | F9 | Zornitza Stark Gene: f9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.181 | F9 | Zornitza Stark Classified gene: F9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.181 | F9 | Zornitza Stark Gene: f9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F9 | Zornitza Stark Tag for review was removed from gene: F9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | IGHM | Zornitza Stark Tag for review was removed from gene: IGHM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F9 | Zornitza Stark reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Marked gene: F5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Classified gene: F5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.180 | F5 | Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F5 | Zornitza Stark Tag for review was removed from gene: F5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F5 | Zornitza Stark reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F2 | Zornitza Stark Marked gene: F2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F2 | Zornitza Stark Gene: f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.179 | F2 | Zornitza Stark Phenotypes for gene: F2 were changed from Dysprothrombinemia, 613679 (3) to Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.178 | F2 | Zornitza Stark Tag for review was removed from gene: F2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.178 | F2 | Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoprothrombinaemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.178 | RPGR | Zornitza Stark Marked gene: RPGR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.178 | RPGR | Zornitza Stark Gene: rpgr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.178 | RPGR | Zornitza Stark Phenotypes for gene: RPGR were changed from Macular degeneration, X-linked atrophic, 300834 (3) to Retinitis pigmentosa 3 (MIM#300029) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.177 | RPGR | Zornitza Stark Publications for gene: RPGR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.176 | RPGR | Zornitza Stark Classified gene: RPGR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.176 | RPGR | Zornitza Stark Gene: rpgr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.175 | RPGR | Zornitza Stark Tag for review was removed from gene: RPGR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.175 | HYDIN | Zornitza Stark Marked gene: HYDIN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.175 | HYDIN | Zornitza Stark Gene: hydin has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.175 | GBA | Zornitza Stark Marked gene: GBA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.175 | GBA | Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.175 | GBA | Zornitza Stark Publications for gene: GBA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.174 | GBA | Zornitza Stark Classified gene: GBA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.174 | GBA | Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.173 | GBA | Zornitza Stark Tag for review was removed from gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.173 | NCF1 | Zornitza Stark Marked gene: NCF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.173 | NCF1 | Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.173 | NCF1 | Zornitza Stark Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) to Chronic granulomatous disease 1, autosomal recessive (MIM#233700) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.172 | NCF1 | Zornitza Stark Publications for gene: NCF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.171 | NCF1 | Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.171 | NCF1 | Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.170 | NCF1 | Zornitza Stark Tag for review was removed from gene: NCF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.170 | HYDIN | Zornitza Stark Publications for gene: HYDIN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.169 | HYDIN | Zornitza Stark Tag for review was removed from gene: HYDIN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.169 | HERC2 | Zornitza Stark Marked gene: HERC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.169 | HERC2 | Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.169 | HERC2 | Zornitza Stark Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, 615516 (3) to Intellectual developmental disorder, autosomal recessive 38 (MIM#615516) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | HERC2 | Zornitza Stark Tag for review was removed from gene: HERC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | RPGR | Crystle Lee changed review comment from: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209; to: Gene is mostly well covered however is missing critical region (ORF15) - ChrX:38286208-38286209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | RPGR | Crystle Lee commented on gene: RPGR: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | GBA | Crystle Lee commented on gene: GBA: Most common pathogenic variant Asn409Ser detectable. Technically challenging to accurately detect the 2nd most common pathogenic variant, Leu483Pro | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | NCF1 | Crystle Lee commented on gene: NCF1: 5 out of 11 exons in the gene does not map accurately (exon 1, 5, 8, 9, 11) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | HYDIN | Crystle Lee edited their review of gene: HYDIN: Added comment: Mapping issues reviewed: Gene is mostly well covered. Insufficient evidence to exclude on technical ground.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.168 | HERC2 |
Crystle Lee edited their review of gene: HERC2: Added comment: Mapping issues reviewed: Majority of exons in this gene are well covered and there is no evidence of any recurrent variants. Insufficient mapping issues to exclude gene. Note: most SNVs reported as VUS. Lots of multigenic CNVs reported.; Changed rating: GREEN |
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| Aortopathy_Connective Tissue Disorders v1.71 | JAG1 | Bryony Thompson Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.71 | JAG1 | Bryony Thompson Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.71 | JAG1 | Bryony Thompson Classified gene: JAG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.71 | JAG1 | Bryony Thompson Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.70 | JAG1 |
Bryony Thompson gene: JAG1 was added gene: JAG1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to 35819173; 30071989; 14993126; 18570795 Phenotypes for gene: JAG1 were set to thoracic aortic aneurysm MONDO:0005396 Review for gene: JAG1 was set to AMBER Added comment: Thoracic aortic aneurysm appears to be a rare feature of Alagille syndrome, but has been reported as a presenting feature in at least 2 families PMID: 35819173 - two families segregating JAG1 variants that present with isolated aneurysmal disease lacking other Alagille syndrome (AGS) clinical characteristics (such as the hepatic abnormalities, posterior embryotoxon, and cardiac structural changes). Histological evaluation of aortic tissue from one of the TAA cases revealed elastin degradation and abnormal collagen deposition. PMID: 30071989 - JAG1 assessed as no (clinical) evidence for HTAAD by the ClinGen Heritable Thoracic Aortic Aneurysm and Dissection GCEP in 2018. Currently under review PMID: 14993126 - three AGS patients with aortic aneurysms and 2 with aortic coarctations identified in a retrospective chart review of 268 AGS individuals autopsy finding in three patients who died of sudden death PMID: 18570795 - 17 yo asymptomatic AGS case with dilatation of the ascending aorta from the root identified Sources: Literature |
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| Mendeliome v1.323 | JAG1 | Bryony Thompson reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35819173, 30071989, 14993126, 18570795; Phenotypes: thoracic aortic aneurysm MONDO:0005396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.323 | OOEP | Bryony Thompson Phenotypes for gene: OOEP were changed from Multi locus imprinting disturbance in offspring to Multi locus imprinting disturbance in offspring; female infertility due to oocyte meiotic arrest MONDO:0044626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.322 | OOEP | Bryony Thompson Publications for gene: OOEP were set to 29574422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.321 | OOEP | Bryony Thompson Classified gene: OOEP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.321 | OOEP | Bryony Thompson Gene: ooep has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4935 | UFSP2 | Zornitza Stark Phenotypes for gene: UFSP2 were changed from Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus to Developmental and epileptic encephalopathy 106, MIM# 620028; Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.320 | OOEP | Bryony Thompson reviewed gene: OOEP: Rating: AMBER; Mode of pathogenicity: None; Publications: 35946397, 18804437; Phenotypes: female infertility due to oocyte meiotic arrest MONDO:0044626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4934 | UFSP2 | Zornitza Stark edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1663 | UFSP2 | Zornitza Stark Phenotypes for gene: UFSP2 were changed from Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus to Developmental and epileptic encephalopathy 106, MIM# 620028; Abnormal muscle tone; Seizures; Global developmental delay; Delayed speech and language development; Intellectual disability; Strabismus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1662 | UFSP2 | Zornitza Stark edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.320 | UFSP2 | Zornitza Stark Phenotypes for gene: UFSP2 were changed from Neurodevelopmental disorder; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 to Developmental and epileptic encephalopathy 106, MIM# 620028; Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.319 | UFSP2 | Zornitza Stark edited their review of gene: UFSP2: Changed phenotypes: Developmental and epileptic encephalopathy 106, MIM# 620028, Hip dysplasia, Beukes type, MIM#142669, Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4934 | TRAPPC10 | Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4933 | TRAPPC10 | Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1662 | TRAPPC10 | Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1661 | TRAPPC10 | Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.152 | TRAPPC10 | Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.151 | TRAPPC10 | Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.319 | TRAPPC10 | Zornitza Stark Phenotypes for gene: TRAPPC10 were changed from neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.318 | TRAPPC10 | Zornitza Stark reviewed gene: TRAPPC10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1661 | CAPRIN1 | Zornitza Stark Publications for gene: CAPRIN1 were set to 35979925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4933 | CAPRIN1 | Zornitza Stark Publications for gene: CAPRIN1 were set to 35979925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.318 | UBAP2L |
Zornitza Stark changed review comment from: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1). Sources: Literature; to: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in 11 individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1). Sources: Literature |
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| Mendeliome v1.318 | UBAP2L | Zornitza Stark Marked gene: UBAP2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.318 | UBAP2L | Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.318 | UBAP2L | Zornitza Stark Classified gene: UBAP2L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.318 | UBAP2L | Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.317 | UBAP2L |
Zornitza Stark gene: UBAP2L was added gene: UBAP2L was added to Mendeliome. Sources: Literature Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UBAP2L were set to 35977029 Phenotypes for gene: UBAP2L were set to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related Review for gene: UBAP2L was set to GREEN Added comment: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1). Sources: Literature |
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| Genetic Epilepsy v0.1660 | UBAP2L | Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1660 | UBAP2L | Zornitza Stark Marked gene: UBAP2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1660 | UBAP2L | Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1660 | UBAP2L | Zornitza Stark Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1659 | UBAP2L | Zornitza Stark Classified gene: UBAP2L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1659 | UBAP2L | Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4932 | UBAP2L | Zornitza Stark Marked gene: UBAP2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4932 | UBAP2L | Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4932 | UBAP2L | Zornitza Stark Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1658 | UBAP2L | Zornitza Stark reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4931 | UBAP2L | Zornitza Stark Mode of inheritance for gene: UBAP2L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4930 | UBAP2L | Zornitza Stark Classified gene: UBAP2L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4930 | UBAP2L | Zornitza Stark Gene: ubap2l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4929 | UBAP2L | Zornitza Stark reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.205 | SMARCB1 | Bryony Thompson Marked gene: SMARCB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.205 | SMARCB1 | Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.205 | SMARCB1 | Bryony Thompson Phenotypes for gene: SMARCB1 were changed from Coffin Siris syndrome to Coffin-Siris syndrome 3, MIM# 614608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.204 | SMARCB1 | Bryony Thompson Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.203 | SMARCB1 | Bryony Thompson Publications for gene: SMARCB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.202 | SMARCB1 | Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.202 | SMARCB1 | Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.201 | SOX11 | Bryony Thompson Marked gene: SOX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.201 | SOX11 | Bryony Thompson Gene: sox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.201 | SOX11 | Bryony Thompson Mode of inheritance for gene: SOX11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.200 | SOX11 | Bryony Thompson Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome MONDO:0015452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.199 | SOX11 | Bryony Thompson Classified gene: SOX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.199 | SOX11 | Bryony Thompson Gene: sox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.198 | SOX11 | Bryony Thompson reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26543203; Phenotypes: Coffin-Siris syndrome MONDO:0015452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.198 | SOX11 | Bryony Thompson Publications for gene: SOX11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.197 | USP9X | Bryony Thompson Marked gene: USP9X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.197 | USP9X | Bryony Thompson Gene: usp9x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.197 | USP9X | Bryony Thompson Phenotypes for gene: USP9X were changed from New syndrom with skd to intellectual disability, X-linked 99 MONDO:0010487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.196 | USP9X | Bryony Thompson Publications for gene: USP9X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.195 | USP9X | Bryony Thompson Mode of inheritance for gene: USP9X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.194 | USP9X | Bryony Thompson Classified gene: USP9X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.194 | USP9X | Bryony Thompson Gene: usp9x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.193 | SMARCE1 | Bryony Thompson Marked gene: SMARCE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.193 | SMARCE1 | Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.193 | SMARCE1 | Bryony Thompson Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.192 | SMARCE1 | Bryony Thompson Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 5, MIM# 616938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.192 | SMARCE1 | Bryony Thompson Mode of inheritance for gene: SMARCE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.191 | SMARCE1 | Bryony Thompson Publications for gene: SMARCE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.190 | SMARCE1 | Bryony Thompson Classified gene: SMARCE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.190 | SMARCE1 | Bryony Thompson Gene: smarce1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.189 | ZNF423 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.67 | ALDH1A2 | Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042 to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.66 | ALDH1A2 | Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.316 | ALDH1A2 | Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.315 | ALDH1A2 | Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.262 | ALDH1A2 | Zornitza Stark Phenotypes for gene: ALDH1A2 were changed from Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; dysmorphic features to Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.261 | ALDH1A2 | Zornitza Stark reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphragmatic hernia 4, with cardiovascular defects, MIM# 620025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.66 | CHKA | Zornitza Stark Phenotypes for gene: CHKA were changed from neurodevelopmental disorder, CHKA-related MONDO#0700092 to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.65 | CHKA | Zornitza Stark reviewed gene: CHKA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4929 | CHKA | Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4928 | CHKA | Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1658 | CHKA | Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | CHKA | Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.151 | CHKA | Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.150 | CHKA | Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.315 | CHKA | Zornitza Stark Phenotypes for gene: CHKA were changed from Neurodevelopmental disorder, MONDO:0700092; Abnormal muscle tone; Global developmental delay; Intellectual disability; Seizures; Microcephaly; Abnormality of movement; Abnormality of nervous system morphology; Short stature to Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.314 | CHKA | Zornitza Stark reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | CAPRIN1 | Konstantinos Varvagiannis reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35979925, 35977029, 28135719, 31398340, https://doi.org/10.1101/2021.12.20.21267194; Phenotypes: Global developmental delay, Delayed speech and language development, Intellectual disability, Autistic behavior, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4928 | CAPRIN1 | Konstantinos Varvagiannis reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35979925, 35977029, 28135719, 31398340, https://doi.org/10.1101/2021.12.20.21267194; Phenotypes: Global developmental delay, Delayed speech and language development, Intellectual disability, Autistic behavior, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | UBAP2L |
Konstantinos Varvagiannis gene: UBAP2L was added gene: UBAP2L was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP2L were set to 35977029 Phenotypes for gene: UBAP2L were set to Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system Penetrance for gene: UBAP2L were set to unknown Review for gene: UBAP2L was set to AMBER Added comment: Seizures have been reported in several individuals although a formal diagnosis of epilepsy was retained in ~30% in a small cohort discussed below. Consider inclusion with amber rating. ----- Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1). Details provided below. Not associated with any phenotype in OMIM, G2P or SysNDD. -------- Jia et al (2022 - PMID: 35977029) describe 12 affected individuals with heterozygous de novo pLoF variants in UBAP2L. Phenotype: Features included hypotonia, speech (11/11) and motor delay (8/12), ID (8/10 with formal evaluation), variable behavioral concerns (ADHD 5/11, ASD in 4/10, etc). Seizures were reported in 7/12 with 3/10 having a formal diagnosis of epilepsy. Few had microcephaly (3/10). Facial dysmorphisms were common (9/9) and included abnormal palpebral fissures, deep prominent concha, high broad forehead, hypertelorism, thin upper lip and mild synophrys (each in 4 or less individuals). Short stature or skeletal alterations were described in some (4/10 each). Role of the gene: UBAP2L encodes an essential regulator of stress granule assembly. Stress granules are membraneless cytoplasmic compartments in eukaryotic cells, induced upon a variety of stressors and playing a role in regulation of gene expression. Variants identified : 9 nonsense/frameshift UBAP2L variants and 3 splicing ones were reported, in all cases as de novo events, upon trio/quad exome sequencing. All were absent from gnomAD. There were no other causative variants. Variant effect/studies (NM_014847.4 / NP_055662.3) : - Minigene assays revealed that the 3 splice variants all resulted in out-of-frame exon skipping. - In patient fibroblasts one of these splice variants was demonstrated to result to reduced protein levels. - 8 of the 9 nonsense/frameshift variants were predicted to result to NMD. - 1 nonsense variant (c.88C>T/p.Q30*) was shown to result to decreased protein expression in patient fibroblasts, with detection of the protein using an antibody for the C terminus but not the N terminus. Protein N-terminal sequencing confirmed that the protein lacked the N terminus, with utilization of an alternative start site (11 codons downstream). - Generation of HeLa UBAP2L KO cell lines resulted in significant reduction of SG numbers which was also the case for 4 variants studied, under stress conditions. - The protein has a DUF domain (aa 495-526) known to mediate interaction of UBAP2L with G3BP1 (a stress granule marker) with deletions of this domain leading to shuttling of UBAP2L from the cytoplasm to the nucleus. Truncating variants upstream of the DUF domain were shown to result in nuclear localization. Mouse model : - The authors generated Ubap2l KO model with hmz deletion of Ubap2l resulting in a lethal phenotype (2.6% survived) and htz deletion leading to behavioral issues (low preference for social novelty, anxious-like behaviors) and cognitive impairment. - Ubap2l haploinsufficiency resulted in abnormal cortical development and lamination with reduction of neural progenitor proliferation. - Ubap2l deficiency was shown to impair SG assembly during cortical development both under physiological stress conditions or upon utilization of an oxidative stress inducer. Additional evidence of UBAP2L and SG overall in pathogenesis of NDDs: - Based on DNMs from 40,853 individuals with NDDs from 26 studies (9,228 with ASD, 31,625 with DD/ID) the authors demonstrate significant excess of DNM in 31 genes encoding SG components, regulators or both, the latter being the case for UBAP2L and 2 further genes (G3BP1 and G3BP2 - both with crucial roles in SG assembly). - Excess dn splice-site (N=3) and missense (N=5) variants in G3BP1 were observed in the above cohort [c.95+1G>A, c.353+1G>T, c.539+1G>A / p.S208C, R320C, V366M]. - Excess dn missense (N=7) variants in G3BP2 were observed in the above cohort [p.R13W, D151N, E158K, L209P, E399D, K408E, R438C]. - Generation of G3BP1 or G3BP2 KO HeLa cell lines and immunofluorescence upon use of oxidative stress inducer revealed significant reduction of stress granules. - Generation of HeLa cell lines for 5 G3BP1 mutants (R78C*, R132I*, S208C*, R320C*, V366M) and 7 G3BP2 mutants (p.R13W*, D151N*, E158K, L209P*, E399D, K408E, R438C) revealed that several (those in asterisk) resulted in significantly fewer SG formation under oxidative stress compared to WT while the subcellular distribution of the proteins under stress was identical to WT. - Among the identified genes for SG enriched for DNMs, CAPRIN1 was implicated in previous publications as a NDD risk gene with 3 dn missense SNVs reported (p.I373K, p.Q446H, p.L484P). CAPRIN1 binding to G3BP1/2 has been shown to promote SG formation. Significant reduction of SG was observed in CAPRIN1 KO HeLa lines. p.I373K abolished interaction with G3BP1/2 and disrupted SG formation. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4928 | UBAP2L |
Konstantinos Varvagiannis gene: UBAP2L was added gene: UBAP2L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: UBAP2L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UBAP2L were set to 35977029 Phenotypes for gene: UBAP2L were set to Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system Penetrance for gene: UBAP2L were set to unknown Review for gene: UBAP2L was set to GREEN Added comment: Based on Jia et al (2022 - PMID: 35977029) speech, motor delay as well as ID are observed in individuals harboring de novo pLoF variants in UBAP2L. The gene encodes a regulator of the stress granule (SG) assembly. Extensive evidence is provided on the effect of variants as well as the role of UBAP2L and other genes for components and/or regulation of SG in pathogenesis of NDDs. Among others a Ubap2l htz deletion mouse model (behavioral and cognitive impairment, abnormal cortical development due to impaired SG assembly, etc). Data from 26 previous studies, aggregating 40,853 probands with NDDs (mostly DD/ID, also ASD) suggest enrichment for DNMs in UBAP2L or other genes previously known and further shown to be important for SG formation (incl. G3BP1/G3BP2, CAPRIN1). Details provided below. Not associated with any phenotype in OMIM, G2P or SysNDD. -------- Jia et al (2022 - PMID: 35977029) describe 12 affected individuals with heterozygous de novo pLoF variants in UBAP2L. Phenotype: Features included hypotonia, speech (11/11) and motor delay (8/12), ID (8/10 with formal evaluation), variable behavioral concerns (ADHD 5/11, ASD in 4/10, etc). Seizures were reported in 7/12 with 3/10 having a formal diagnosis of epilepsy. Few had microcephaly (3/10). Facial dysmorphisms were common (9/9) and included abnormal palpebral fissures, deep prominent concha, high broad forehead, hypertelorism, thin upper lip and mild synophrys (each in 4 or less individuals). Short stature or skeletal alterations were described in some (4/10 each). Role of the gene: UBAP2L encodes an essential regulator of stress granule assembly. Stress granules are membraneless cytoplasmic compartments in eukaryotic cells, induced upon a variety of stressors and playing a role in regulation of gene expression. Variants identified : 9 nonsense/frameshift UBAP2L variants and 3 splicing ones were reported, in all cases as de novo events, upon trio/quad exome sequencing. All were absent from gnomAD. There were no other causative variants. Variant effect/studies (NM_014847.4 / NP_055662.3) : - Minigene assays revealed that the 3 splice variants all resulted in out-of-frame exon skipping. - In patient fibroblasts one of these splice variants was demonstrated to result to reduced protein levels. - 8 of the 9 nonsense/frameshift variants were predicted to result to NMD. - 1 nonsense variant (c.88C>T/p.Q30*) was shown to result to decreased protein expression in patient fibroblasts, with detection of the protein using an antibody for the C terminus but not the N terminus. Protein N-terminal sequencing confirmed that the protein lacked the N terminus, with utilization of an alternative start site (11 codons downstream). - Generation of HeLa UBAP2L KO cell lines resulted in significant reduction of SG numbers which was also the case for 4 variants studied, under stress conditions. - The protein has a DUF domain (aa 495-526) known to mediate interaction of UBAP2L with G3BP1 (a stress granule marker) with deletions of this domain leading to shuttling of UBAP2L from the cytoplasm to the nucleus. Truncating variants upstream of the DUF domain were shown to result in nuclear localization. Mouse model : - The authors generated Ubap2l KO model with hmz deletion of Ubap2l resulting in a lethal phenotype (2.6% survived) and htz deletion leading to behavioral issues (low preference for social novelty, anxious-like behaviors) and cognitive impairment. - Ubap2l haploinsufficiency resulted in abnormal cortical development and lamination with reduction of neural progenitor proliferation. - Ubap2l deficiency was shown to impair SG assembly during cortical development both under physiological stress conditions or upon utilization of an oxidative stress inducer. Additional evidence of UBAP2L and SG overall in pathogenesis of NDDs: - Based on DNMs from 40,853 individuals with NDDs from 26 studies (9,228 with ASD, 31,625 with DD/ID) the authors demonstrate significant excess of DNM in 31 genes encoding SG components, regulators or both, the latter being the case for UBAP2L and 2 further genes (G3BP1 and G3BP2 - both with crucial roles in SG assembly). - Excess dn splice-site (N=3) and missense (N=5) variants in G3BP1 were observed in the above cohort [c.95+1G>A, c.353+1G>T, c.539+1G>A / p.S208C, R320C, V366M]. - Excess dn missense (N=7) variants in G3BP2 were observed in the above cohort [p.R13W, D151N, E158K, L209P, E399D, K408E, R438C]. - Generation of G3BP1 or G3BP2 KO HeLa cell lines and immunofluorescence upon use of oxidative stress inducer revealed significant reduction of stress granules. - Generation of HeLa cell lines for 5 G3BP1 mutants (R78C*, R132I*, S208C*, R320C*, V366M) and 7 G3BP2 mutants (p.R13W*, D151N*, E158K, L209P*, E399D, K408E, R438C) revealed that several (those in asterisk) resulted in significantly fewer SG formation under oxidative stress compared to WT while the subcellular distribution of the proteins under stress was identical to WT. - Among the identified genes for SG enriched for DNMs, CAPRIN1 was implicated in previous publications as a NDD risk gene with 3 dn missense SNVs reported (p.I373K, p.Q446H, p.L484P). CAPRIN1 binding to G3BP1/2 has been shown to promote SG formation. Significant reduction of SG was observed in CAPRIN1 KO HeLa lines. p.I373K abolished interaction with G3BP1/2 and disrupted SG formation. Sources: Literature |
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| Skeletal dysplasia v0.189 | ARSK | Bryony Thompson Classified gene: ARSK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.189 | ARSK | Bryony Thompson Gene: arsk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.188 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.187 | PAM16 | Bryony Thompson Marked gene: PAM16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.187 | PAM16 | Bryony Thompson Gene: pam16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.187 | PAM16 | Bryony Thompson Classified gene: PAM16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.187 | PAM16 | Bryony Thompson Gene: pam16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.186 | MIR17HG | Bryony Thompson Marked gene: MIR17HG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.186 | MIR17HG | Bryony Thompson Gene: mir17hg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.186 | MIR17HG | Bryony Thompson Classified gene: MIR17HG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.186 | MIR17HG | Bryony Thompson Gene: mir17hg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | WDPCP | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | TTC8 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | SLC31A1 | Zornitza Stark Marked gene: SLC31A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | SLC31A1 | Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1657 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.314 | SLC31A1 | Zornitza Stark Marked gene: SLC31A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.314 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.314 | SLC31A1 | Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.314 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4928 | SLC31A1 | Zornitza Stark Marked gene: SLC31A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4928 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4928 | SLC31A1 | Zornitza Stark Classified gene: SLC31A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4928 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | BBS9 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | BBS7 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | BBS5 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | BBS4 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | BBS2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | BBS10 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.185 | ARL6 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.23 | Bryony Thompson removed gene:BCKDK from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.22 | Bryony Thompson removed gene:BCAT2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.21 | Bryony Thompson removed gene:ACAD8 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metabolic Disorders Superpanel v5.412 | Bryony Thompson Changed child panels to: Congenital Disorders of Glycosylation; Miscellaneous Metabolic Disorders; Fatty Acid Oxidation Defects; Lysosomal Storage Disorder; Neurotransmitter Defects; Renal Hypertension and Disorders of Aldosterone Metabolism; Glycogen Storage Diseases; Mitochondrial disease; Rhabdomyolysis; Nephrolithiasis and Nephrocalcinosis; Disorders of branched chain amino acid metabolism; Peroxisomal Disorders; Renal abnormalities of calcium and phosphate metabolism; Dyslipidaemia; Renal Abnormalities of Magnesium Metabolism; Iron metabolism disorders; Metabolic renal disease; Hypomagnesaemia; Vitamin C Pathway Disorders; Porphyria; Hyperammonaemia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.49 |
Bryony Thompson Panel status changed from internal to public Panel types changed to Royal Melbourne Hospital; Rare Disease |
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| Aminoacidopathy v0.48 | TAZ | Bryony Thompson Marked gene: TAZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.48 | TAZ | Bryony Thompson Gene: taz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.48 | TAZ | Bryony Thompson Classified gene: TAZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.48 | TAZ | Bryony Thompson Gene: taz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.47 | SERAC1 | Bryony Thompson Marked gene: SERAC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.47 | SERAC1 | Bryony Thompson Gene: serac1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.47 | SERAC1 | Bryony Thompson Publications for gene: SERAC1 were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.46 | SERAC1 | Bryony Thompson Classified gene: SERAC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.46 | SERAC1 | Bryony Thompson Gene: serac1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.45 | PCCB | Bryony Thompson Marked gene: PCCB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.45 | PCCB | Bryony Thompson Gene: pccb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.45 | PCCB | Bryony Thompson Publications for gene: PCCB were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.44 | PCCB | Bryony Thompson Classified gene: PCCB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.44 | PCCB | Bryony Thompson Gene: pccb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.43 | PCCA | Bryony Thompson Classified gene: PCCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.43 | PCCA | Bryony Thompson Gene: pcca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.42 | PCCA | Bryony Thompson Marked gene: PCCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.42 | PCCA | Bryony Thompson Gene: pcca has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.42 | PCCA | Bryony Thompson Publications for gene: PCCA were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.41 | OPA3 | Bryony Thompson Classified gene: OPA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.41 | OPA3 | Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.40 | MUT | Bryony Thompson Marked gene: MUT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.40 | MUT | Bryony Thompson Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.40 | MUT | Bryony Thompson Publications for gene: MUT were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.39 | MUT | Bryony Thompson Classified gene: MUT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.39 | MUT | Bryony Thompson Gene: mut has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.38 | MMADHC | Bryony Thompson Marked gene: MMADHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.38 | MMADHC | Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.38 | MMADHC | Bryony Thompson Publications for gene: MMADHC were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.37 | MMADHC | Bryony Thompson Classified gene: MMADHC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.37 | MMADHC | Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.36 | MMAB | Bryony Thompson Marked gene: MMAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.36 | MMAB | Bryony Thompson Gene: mmab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.36 | MMAB | Bryony Thompson Classified gene: MMAB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.36 | MMAB | Bryony Thompson Gene: mmab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.35 | MMAA | Bryony Thompson Marked gene: MMAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.35 | MMAA | Bryony Thompson Gene: mmaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.35 | MMAA | Bryony Thompson Classified gene: MMAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.35 | MMAA | Bryony Thompson Gene: mmaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.34 | MCCC2 | Bryony Thompson Marked gene: MCCC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.34 | MCCC2 | Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.34 | MCCC2 | Bryony Thompson Publications for gene: MCCC2 were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.33 | MCCC2 | Bryony Thompson Classified gene: MCCC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.33 | MCCC2 | Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.32 | MCCC1 | Bryony Thompson Marked gene: MCCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.32 | MCCC1 | Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.32 | MCCC1 | Bryony Thompson Publications for gene: MCCC1 were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.31 | MCCC1 | Bryony Thompson Classified gene: MCCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.31 | MCCC1 | Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.30 | IVD | Bryony Thompson Marked gene: IVD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.30 | IVD | Bryony Thompson Gene: ivd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.30 | IVD | Bryony Thompson Publications for gene: IVD were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.29 | IVD | Bryony Thompson Classified gene: IVD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.29 | IVD | Bryony Thompson Gene: ivd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.28 | HMGCL | Bryony Thompson Marked gene: HMGCL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.28 | HMGCL | Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.28 | HMGCL | Bryony Thompson Publications for gene: HMGCL were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.27 | HMGCL | Bryony Thompson Classified gene: HMGCL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.27 | HMGCL | Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.26 | HIBCH | Bryony Thompson Marked gene: HIBCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.26 | HIBCH | Bryony Thompson Gene: hibch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.26 | HIBCH | Bryony Thompson Publications for gene: HIBCH were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.25 | HIBCH | Bryony Thompson Classified gene: HIBCH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.25 | HIBCH | Bryony Thompson Gene: hibch has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.24 | DNAJC19 | Bryony Thompson Marked gene: DNAJC19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.24 | DNAJC19 | Bryony Thompson Gene: dnajc19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.24 | DNAJC19 | Bryony Thompson Publications for gene: DNAJC19 were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.23 | DNAJC19 | Bryony Thompson Classified gene: DNAJC19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.23 | DNAJC19 | Bryony Thompson Gene: dnajc19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Marked gene: CLPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.21 | CLPB | Bryony Thompson Publications for gene: CLPB were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.20 | CLPB | Bryony Thompson Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.19 | CLPB | Bryony Thompson Classified gene: CLPB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.19 | CLPB | Bryony Thompson Gene: clpb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.18 | AUH | Bryony Thompson Marked gene: AUH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.18 | AUH | Bryony Thompson Gene: auh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.18 | AUH | Bryony Thompson Publications for gene: AUH were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.17 | AUH | Bryony Thompson Classified gene: AUH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.17 | AUH | Bryony Thompson Gene: auh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.16 | ALDH6A1 | Bryony Thompson Marked gene: ALDH6A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.16 | ALDH6A1 | Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.16 | ALDH6A1 | Bryony Thompson Publications for gene: ALDH6A1 were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.15 | ALDH6A1 | Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.15 | ALDH6A1 | Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.14 | ACAT1 | Bryony Thompson Marked gene: ACAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.14 | ACAT1 | Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.14 | ACAT1 | Bryony Thompson Classified gene: ACAT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.14 | ACAT1 | Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.13 | ACADSB | Bryony Thompson Marked gene: ACADSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.13 | ACADSB | Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.13 | ACADSB | Bryony Thompson Publications for gene: ACADSB were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.12 | ACADSB | Bryony Thompson Classified gene: ACADSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.12 | ACADSB | Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.11 | ACAD8 | Bryony Thompson Marked gene: ACAD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.11 | ACAD8 | Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.11 | ACAD8 | Bryony Thompson Publications for gene: ACAD8 were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.10 | ACAD8 | Bryony Thompson Classified gene: ACAD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.10 | ACAD8 | Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.9 | DLD | Bryony Thompson Marked gene: DLD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.9 | DLD | Bryony Thompson Gene: dld has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.9 | DLD | Bryony Thompson Publications for gene: DLD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.8 | DBT | Bryony Thompson Marked gene: DBT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.8 | DBT | Bryony Thompson Gene: dbt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.8 | DBT | Bryony Thompson Publications for gene: DBT were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.7 | BCKDK | Bryony Thompson Marked gene: BCKDK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.7 | BCKDK | Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.7 | BCKDK | Bryony Thompson Publications for gene: BCKDK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.6 | BCKDHB | Bryony Thompson Marked gene: BCKDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.6 | BCKDHB | Bryony Thompson Gene: bckdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.6 | BCKDHB | Bryony Thompson Publications for gene: BCKDHB were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.5 | BCKDHA | Bryony Thompson Marked gene: BCKDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.5 | BCKDHA | Bryony Thompson Gene: bckdha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.5 | BCKDHA | Bryony Thompson Publications for gene: BCKDHA were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.4 | BCAT2 | Bryony Thompson Marked gene: BCAT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.4 | BCAT2 | Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.4 | BCAT2 | Bryony Thompson Publications for gene: BCAT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.3 | PPM1K | Bryony Thompson Marked gene: PPM1K as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.3 | PPM1K | Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.3 | PPM1K | Bryony Thompson Publications for gene: PPM1K were set to 29152456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.2 | PPM1K | Bryony Thompson Classified gene: PPM1K as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.2 | PPM1K | Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.0 | DLD |
Bryony Thompson gene: DLD was added gene: DLD was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to pyruvate dehydrogenase E3 deficiency MONDO:0009529 |
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| Aminoacidopathy v0.0 | BCAT2 |
Bryony Thompson gene: BCAT2 was added gene: BCAT2 was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCAT2 were set to hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058 |
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| Aminoacidopathy v0.0 | BCKDK |
Bryony Thompson gene: BCKDK was added gene: BCKDK was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDK were set to branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 |
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| Aminoacidopathy v0.0 | MMADHC |
Bryony Thompson gene: MMADHC was added gene: MMADHC was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMADHC were set to 29152456 Phenotypes for gene: MMADHC were set to methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 |
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| Aminoacidopathy v0.0 | MMAB |
Bryony Thompson gene: MMAB was added gene: MMAB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 29152456 Phenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614 |
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| Aminoacidopathy v0.0 | MMAA |
Bryony Thompson gene: MMAA was added gene: MMAA was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 29152456 Phenotypes for gene: MMAA were set to methylmalonic aciduria, cblA type MONDO:0009613 |
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| Aminoacidopathy v0.0 | MUT |
Bryony Thompson gene: MUT was added gene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 29152456 Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 |
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| Aminoacidopathy v0.0 | PCCB |
Bryony Thompson gene: PCCB was added gene: PCCB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 29152456 Phenotypes for gene: PCCB were set to propionic acidemia MONDO:0011628 |
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| Aminoacidopathy v0.0 | PCCA |
Bryony Thompson gene: PCCA was added gene: PCCA was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 29152456 Phenotypes for gene: PCCA were set to propionic acidemia MONDO:0011628 |
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| Aminoacidopathy v0.0 | ALDH6A1 |
Bryony Thompson gene: ALDH6A1 was added gene: ALDH6A1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 29152456 Phenotypes for gene: ALDH6A1 were set to methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 |
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| Aminoacidopathy v0.0 | HIBCH |
Bryony Thompson gene: HIBCH was added gene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 29152456 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 |
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| Aminoacidopathy v0.0 | ACAD8 |
Bryony Thompson gene: ACAD8 was added gene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 29152456 Phenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 |
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| Aminoacidopathy v0.0 | ACAT1 |
Bryony Thompson gene: ACAT1 was added gene: ACAT1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 29152456 Phenotypes for gene: ACAT1 were set to beta-ketothiolase deficiency MONDO:0008760 |
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| Aminoacidopathy v0.0 | ACADSB |
Bryony Thompson gene: ACADSB was added gene: ACADSB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 29152456 Phenotypes for gene: ACADSB were set to 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 |
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| Aminoacidopathy v0.0 | HMGCL |
Bryony Thompson gene: HMGCL was added gene: HMGCL was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 29152456 Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 |
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| Aminoacidopathy v0.0 | CLPB |
Bryony Thompson gene: CLPB was added gene: CLPB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 29152456 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 |
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| Aminoacidopathy v0.0 | SERAC1 |
Bryony Thompson gene: SERAC1 was added gene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 29152456 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 |
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| Aminoacidopathy v0.0 | DNAJC19 |
Bryony Thompson gene: DNAJC19 was added gene: DNAJC19 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 29152456 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria type 5 MONDO:0012435 |
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| Aminoacidopathy v0.0 | OPA3 |
Bryony Thompson gene: OPA3 was added gene: OPA3 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 29152456 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria type 3 MONDO:0009787 |
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| Aminoacidopathy v0.0 | TAZ |
Bryony Thompson gene: TAZ was added gene: TAZ was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 29152456 Phenotypes for gene: TAZ were set to 3-methylglutaconic aciduria MONDO:0017359 |
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| Aminoacidopathy v0.0 | AUH |
Bryony Thompson gene: AUH was added gene: AUH was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 29152456 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria type 1 MONDO:0009610 |
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| Aminoacidopathy v0.0 | MCCC2 |
Bryony Thompson gene: MCCC2 was added gene: MCCC2 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC2 were set to 29152456 Phenotypes for gene: MCCC2 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 |
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| Aminoacidopathy v0.0 | MCCC1 |
Bryony Thompson gene: MCCC1 was added gene: MCCC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 29152456 Phenotypes for gene: MCCC1 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 |
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| Aminoacidopathy v0.0 | IVD |
Bryony Thompson gene: IVD was added gene: IVD was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 29152456 Phenotypes for gene: IVD were set to isovaleric acidemia MONDO:0009475 |
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| Aminoacidopathy v0.0 | PPM1K |
Bryony Thompson gene: PPM1K was added gene: PPM1K was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPM1K were set to 29152456 Phenotypes for gene: PPM1K were set to maple syrup urine disease, mild variant MONDO:0014057 |
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| Aminoacidopathy v0.0 | DBT |
Bryony Thompson gene: DBT was added gene: DBT was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBT were set to 29152456 Phenotypes for gene: DBT were set to maple syrup urine disease MONDO:0009563 |
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| Aminoacidopathy v0.0 | BCKDHB |
Bryony Thompson gene: BCKDHB was added gene: BCKDHB was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 29152456 Phenotypes for gene: BCKDHB were set to maple syrup urine disease type 1B MONDO:0023692 |
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| Aminoacidopathy v0.0 | BCKDHA |
Bryony Thompson gene: BCKDHA was added gene: BCKDHA was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHA were set to 29152456 Phenotypes for gene: BCKDHA were set to maple syrup urine disease type 1A MONDO:0023691 |
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| Aminoacidopathy v0.0 | Bryony Thompson Added panel Disorders of branched chain amino acid metabolism | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel v1.47 | Bryony Thompson Panel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Rare Disease; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.47 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Australian Genomics; Rare Disease; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4927 | PPFIBP1 | Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1656 | PPFIBP1 | Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4926 | PPFIBP1 | Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1655 | PPFIBP1 | Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1654 | PPFIBP1 | Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.150 | PPFIBP1 | Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.149 | PPFIBP1 | Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.313 | PPFIBP1 | Zornitza Stark Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIBP1-related to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.312 | PPFIBP1 | Zornitza Stark edited their review of gene: PPFIBP1: Changed publications: 35830857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.312 | PPFIBP1 | Zornitza Stark edited their review of gene: PPFIBP1: Changed phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.312 | PDZD8 | Zornitza Stark Marked gene: PDZD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.312 | PDZD8 | Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.312 | PDZD8 | Zornitza Stark Classified gene: PDZD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.312 | PDZD8 | Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.311 | PDZD8 |
Zornitza Stark gene: PDZD8 was added gene: PDZD8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDZD8 were set to 35227461 Phenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021 Review for gene: PDZD8 was set to GREEN Added comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4926 | PDZD8 | Zornitza Stark Marked gene: PDZD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4926 | PDZD8 | Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4926 | PDZD8 | Zornitza Stark Classified gene: PDZD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4926 | PDZD8 | Zornitza Stark Gene: pdzd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4925 | PDZD8 |
Zornitza Stark gene: PDZD8 was added gene: PDZD8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDZD8 were set to 35227461 Phenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021 Review for gene: PDZD8 was set to GREEN Added comment: Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association. Sources: Literature |
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| Mendeliome v1.310 | SLC31A1 |
Daniel Flanagan gene: SLC31A1 was added gene: SLC31A1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to PMID: 35913762 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) Review for gene: SLC31A1 was set to RED Added comment: SLC31A1 is also referred to as CTR1. Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. Sources: Expert list |
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| Genetic Epilepsy v0.1654 | SLC31A1 |
Daniel Flanagan gene: SLC31A1 was added gene: SLC31A1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to PMID: 35913762 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) Review for gene: SLC31A1 was set to RED Added comment: SLC31A1 is also referred to as CTR1. Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.4924 | SLC31A1 |
Daniel Flanagan gene: SLC31A1 was added gene: SLC31A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to PMID: 35913762 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) Review for gene: SLC31A1 was set to RED Added comment: SLC31A1 is also referred to as CTR1. Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality. Sources: Expert list |
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| Pituitary hormone deficiency v0.29 | SIX3 | Zornitza Stark Marked gene: SIX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.29 | SIX3 | Zornitza Stark Gene: six3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.29 | SIX3 | Zornitza Stark Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.28 | SIX3 | Zornitza Stark Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2 (157170); Non-acquired combined pituitary hormone deficiency MONDO:0018762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.27 | SIX3 | Zornitza Stark Publications for gene: SIX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.310 | HNRNPH1 | Zornitza Stark Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability to HNRNPH1‐related syndromic intellectual disability; early onset high myopia, MONDO:0001384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.309 | HNRNPH1 | Zornitza Stark Publications for gene: HNRNPH1 were set to 32335897; 29938792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.278 | TMEM163 | Zornitza Stark Marked gene: TMEM163 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.278 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.278 | TMEM163 | Zornitza Stark Classified gene: TMEM163 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.278 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.277 | TMEM163 | Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4924 | TMEM163 | Zornitza Stark Marked gene: TMEM163 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4924 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4924 | TMEM163 | Zornitza Stark Classified gene: TMEM163 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4924 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4923 | TMEM163 | Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.308 | TMEM163 | Zornitza Stark Marked gene: TMEM163 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.308 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.308 | TMEM163 | Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.307 | TMEM163 | Zornitza Stark Classified gene: TMEM163 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.307 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1654 | TMEM163 | Zornitza Stark Marked gene: TMEM163 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1654 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1654 | TMEM163 | Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy, MONDO:0019046 to Hypomyelinating leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1654 | TMEM163 | Zornitza Stark Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1653 | TMEM163 | Zornitza Stark Classified gene: TMEM163 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1653 | TMEM163 | Zornitza Stark Gene: tmem163 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.306 | NBAS | Zornitza Stark Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483; Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.305 | NBAS | Zornitza Stark Publications for gene: NBAS were set to 31761904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.304 | NBAS | Zornitza Stark edited their review of gene: NBAS: Added comment: PMID 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.; Changed publications: 31761904, 35902954; Changed phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800, Infantile liver failure syndrome 2, MIM# 616483, Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.155 | NBAS | Zornitza Stark Marked gene: NBAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.155 | NBAS | Zornitza Stark Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.155 | NBAS | Zornitza Stark Phenotypes for gene: NBAS were changed from Hemophagocytic lymphohistiocytosis (HLH) to Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.154 | NBAS | Zornitza Stark Classified gene: NBAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.154 | NBAS | Zornitza Stark Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.19 | TYMS | Zornitza Stark Marked gene: TYMS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.19 | TYMS | Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.19 | TYMS | Zornitza Stark Classified gene: TYMS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.19 | TYMS | Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.304 | TYMS | Zornitza Stark Marked gene: TYMS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.304 | TYMS | Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.18 | TYMS | Zornitza Stark reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.304 | TYMS | Zornitza Stark Classified gene: TYMS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.304 | TYMS | Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.303 | TYMS | Zornitza Stark reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1652 | COX11 | Zornitza Stark Marked gene: COX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1652 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.836 | COX11 | Zornitza Stark Marked gene: COX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.836 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.836 | COX11 | Zornitza Stark Classified gene: COX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.836 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.835 | COX11 |
Zornitza Stark gene: COX11 was added gene: COX11 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551 Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related Review for gene: COX11 was set to GREEN Added comment: PMID: 36030551 - Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. - Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10. - RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. Sources: Literature |
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| Mendeliome v1.303 | COX11 | Zornitza Stark Marked gene: COX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.303 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.303 | COX11 | Zornitza Stark Classified gene: COX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.303 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.302 | COX11 |
Zornitza Stark gene: COX11 was added gene: COX11 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551 Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related Review for gene: COX11 was set to GREEN Added comment: PMID: 36030551 - Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. - Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10. - RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4922 | COX11 | Zornitza Stark Marked gene: COX11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4922 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1652 | COX11 | Zornitza Stark Classified gene: COX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1652 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4922 | COX11 | Zornitza Stark Classified gene: COX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4922 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1651 | COX11 | Zornitza Stark Classified gene: COX11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1651 | COX11 | Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.301 | SARS | Zornitza Stark Publications for gene: SARS were set to 28236339; 34570399; 35790048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4921 | TMEM147 | Zornitza Stark Marked gene: TMEM147 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4921 | TMEM147 | Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4921 | TMEM147 | Zornitza Stark Classified gene: TMEM147 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4921 | TMEM147 | Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.300 | TMEM147 | Zornitza Stark Marked gene: TMEM147 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.300 | TMEM147 | Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.300 | TMEM147 | Zornitza Stark Classified gene: TMEM147 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.300 | TMEM147 | Zornitza Stark Gene: tmem147 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | SAT1 | Zornitza Stark Marked gene: SAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | SAT1 | Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | SAT1 | Zornitza Stark Marked gene: SAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | SAT1 | Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | SAT1 | Zornitza Stark Classified gene: SAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | SAT1 | Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.299 | SAT1 | Zornitza Stark Phenotypes for gene: SAT1 were changed from to Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Keratosis follicularis spinulosa decalvans | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.298 | SAT1 | Zornitza Stark Publications for gene: SAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.297 | SAT1 | Zornitza Stark Mode of inheritance for gene: SAT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.296 | SAT1 | Zornitza Stark Classified gene: SAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.296 | SAT1 | Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.48 | NOTCH1 | Zornitza Stark Marked gene: NOTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.48 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.276 | NOTCH1 | Zornitza Stark Marked gene: NOTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.276 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.104 | NOTCH1 | Zornitza Stark Marked gene: NOTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.104 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.104 | NOTCH1 | Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.104 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.276 | NOTCH1 | Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.276 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.48 | NOTCH1 | Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.48 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.2 | NOTCH1 | Zornitza Stark Marked gene: NOTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.2 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.2 | NOTCH1 | Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v1.2 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.295 | CEP104 | Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.294 | CEP104 | Zornitza Stark Publications for gene: CEP104 were set to 26477546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4920 | CEP104 | Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.293 | GATA1 | Zornitza Stark Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Diamond-Blackfan anemia (MONDO:0015253) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4919 | CEP104 | Zornitza Stark Publications for gene: CEP104 were set to 26477546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4918 | NOTCH1 | Zornitza Stark Marked gene: NOTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4918 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4918 | NOTCH1 | Zornitza Stark Classified gene: NOTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4918 | NOTCH1 | Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.292 | GATA1 | Zornitza Stark Publications for gene: GATA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.291 | GATA1 | Zornitza Stark edited their review of gene: GATA1: Added comment: PMID 36029112: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype.; Changed publications: 36029112; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835, Diamond-Blackfan anemia (MONDO:0015253) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Classified gene: GATA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v1.4 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.291 | LGI3 | Zornitza Stark Marked gene: LGI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.291 | LGI3 | Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.291 | LGI3 | Zornitza Stark Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.290 | LGI3 | Zornitza Stark Classified gene: LGI3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.290 | LGI3 | Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.289 | LGI3 | Zornitza Stark reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4917 | LGI3 | Zornitza Stark Marked gene: LGI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4917 | LGI3 | Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4917 | LGI3 | Zornitza Stark Phenotypes for gene: LGI3 were changed from Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi to Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4916 | LGI3 | Zornitza Stark Classified gene: LGI3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4916 | LGI3 | Zornitza Stark Gene: lgi3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4915 | LGI3 | Zornitza Stark reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, LGI3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.352 | ADAMTS15 | Zornitza Stark Marked gene: ADAMTS15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.352 | ADAMTS15 | Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.65 | ADAMTS15 | Zornitza Stark Marked gene: ADAMTS15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.65 | ADAMTS15 | Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.65 | ADAMTS15 | Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.65 | ADAMTS15 | Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.64 | ADAMTS15 |
Zornitza Stark gene: ADAMTS15 was added gene: ADAMTS15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to 35962790 Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related Review for gene: ADAMTS15 was set to GREEN Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature |
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| Mendeliome v1.289 | TMEM147 |
Naomi Baker gene: TMEM147 was added gene: TMEM147 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM147 were set to PMID: 36044892 Phenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related Review for gene: TMEM147 was set to GREEN Added comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4915 | TMEM147 |
Naomi Baker gene: TMEM147 was added gene: TMEM147 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM147 were set to PMID: 36044892 Phenotypes for gene: TMEM147 were set to Neurodevelopmental disorder (MONDO:0700092), TMEM147-related Review for gene: TMEM147 was set to GREEN Added comment: PMID: 36044892; Twelve different variants reported in 23 affected individuals from 15 unrelated families with biallelic variants. All individuals had global developmental delay and intellectual disability. Consistent facial dysmorphisms included coarse facies, prominent forehead, board depressed nasal root, tented mouth, long smooth philtrum, and low-set ears. In vitro studies of missense variants demonstrated accelerated protein degradation via the autophagy-lysosomal pathway, while analysis of primary fibroblasts and granulocytes provided functional evidence of ER and nuclear envelope dysfunction. Sources: Literature |
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| Mendeliome v1.289 | SARS | Ee Ming Wong reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder, MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.163 | SAT1 |
Ee Ming Wong gene: SAT1 was added gene: SAT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: SAT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SAT1 were set to 25977808 Phenotypes for gene: SAT1 were set to Systemic lupus erythematosus, MONDO:0007915, SAT1-related Penetrance for gene: SAT1 were set to unknown Review for gene: SAT1 was set to AMBER gene: SAT1 was marked as current diagnostic Added comment: - Two SAT1 loss of function variants reported in four SLE males across two American-African families, inherited from their unaffected mothers - Using a minigene assay, the p.(Asp40Tyr) variant was shown to result in aberrant splicing - Hemizygous knock-in male mice and homozygous female mice carrying the p.(Glu92Leufs*6) variant spontaneously developed lupus-like autoimmune disease, including splenomegaly, glomerular infiltration of leukocytes, proteinuria and elevated type I interferon scores Sources: Literature |
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| Mendeliome v1.289 | ADAMTS15 | Zornitza Stark Marked gene: ADAMTS15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.289 | ADAMTS15 | Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.289 | ADAMTS15 | Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.289 | ADAMTS15 | Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.352 | ADAMTS15 | Zornitza Stark Classified gene: ADAMTS15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.352 | ADAMTS15 | Zornitza Stark Gene: adamts15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1650 | CAPRIN1 | Zornitza Stark Marked gene: CAPRIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1650 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1650 | CAPRIN1 | Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1650 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.217 | UCHL1 | Zornitza Stark Marked gene: UCHL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.217 | UCHL1 | Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.288 | CAPRIN1 | Zornitza Stark Marked gene: CAPRIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.288 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4915 | SARS | Ee Ming Wong reviewed gene: SARS: Rating: RED; Mode of pathogenicity: Other; Publications: 36041817; Phenotypes: neurodevelopmental disorder MONDO#070009, SARS1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.288 | CAPRIN1 | Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.288 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1649 | COX11 |
Chern Lim gene: COX11 was added gene: COX11 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551 Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related Review for gene: COX11 was set to GREEN gene: COX11 was marked as current diagnostic Added comment: PMID: 36030551 - Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. - Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10. - RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4915 | COX11 |
Chern Lim gene: COX11 was added gene: COX11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551 Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related Review for gene: COX11 was set to GREEN gene: COX11 was marked as current diagnostic Added comment: PMID: 36030551 - Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. - Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10. - RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. Sources: Literature |
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| Mendeliome v1.287 | CBLB | Alison Yeung Marked gene: CBLB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.287 | CBLB | Alison Yeung Gene: cblb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.287 | CBLB | Alison Yeung Classified gene: CBLB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.287 | CBLB | Alison Yeung Gene: cblb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.286 | CBLB |
Alison Yeung gene: CBLB was added gene: CBLB was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBLB were set to 36006710 Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179 Review for gene: CBLB was set to GREEN Added comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking. Sources: Literature |
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| Mendeliome v1.285 | TYMS |
Lucy Spencer gene: TYMS was added gene: TYMS was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TYMS was set to Other Publications for gene: TYMS were set to 35931051 Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780 Review for gene: TYMS was set to RED Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant. The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance. The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children. Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls. Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1. Sources: Literature |
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| Disorders of immune dysregulation v0.153 | CBLB | Alison Yeung Marked gene: CBLB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.153 | CBLB | Alison Yeung Gene: cblb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.153 | CBLB | Alison Yeung Classified gene: CBLB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.153 | CBLB | Alison Yeung Gene: cblb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.152 | CBLB |
Alison Yeung gene: CBLB was added gene: CBLB was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: CBLB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBLB were set to 36006710 Phenotypes for gene: CBLB were set to Autoimmune disease, MONDO:0007179 Review for gene: CBLB was set to GREEN Added comment: Distinct homozygous mutations in CBLB were identified in three unrelated children with early onset autoimmunity. Mice homozygous for the CBL-B p.H257L mutation, which corresponds to the patient's p.H285L mutation, had T and B cell hyper-proliferation in response to antigen receptor cross-linking. Sources: Literature |
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| Mendeliome v1.285 | CEP104 | Belinda Chong reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 34196201, 35359234; Phenotypes: CEP104 Neurodevelopmental disorder, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.151 | NBAS |
Belinda Chong gene: NBAS was added gene: NBAS was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 35902954 Phenotypes for gene: NBAS were set to Hemophagocytic lymphohistiocytosis (HLH) Review for gene: NBAS was set to GREEN gene: NBAS was marked as current diagnostic Added comment: 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus. Sources: Literature |
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| Genetic Epilepsy v0.1649 | TMEM163 |
Teresa Zhao gene: TMEM163 was added gene: TMEM163 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to PMID: 35953447 Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy Review for gene: TMEM163 was set to GREEN Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures. Sources: Literature |
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| Mendeliome v1.285 | LGI3 | Melanie Marty edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.285 | HNRNPH1 |
Hazel Phillimore changed review comment from: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2). In gnomAD, there are very few LOF variants. (LOF shows pLI = 1). The group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma.; to: PMID: 35989590; Ouyang, J. et al. (2022): Two loss of function variants c.2dup, p.(M1?) and c.121dup, p.(Q41Pfs*20), were found in two individuals with early onset high myopia. They were in cohort of 928 probands with early onset high myopia. The pedigrees for these probands indicate that no other relatives were affected. However, it does not appear that any relatives were tested for these variants. These variants were reported to be absent in gnomAD. Note: there is actually 1 heterozygote for an alternative variant that is predicted to cause p.(Met1?) in gnomADv2. In gnomAD, there are very few LOF variants. (LOF shows pLI = 1). The group also studied knockdown of this gene in zebrafish, which resulted in ocular coloboma. |
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| Intellectual disability syndromic and non-syndromic v0.4915 | LGI3 | Melanie Marty edited their review of gene: LGI3: Changed phenotypes: Global developmental delay, Intellectual disability, Distal deformities, Diminished reflexes, Facial myokymia, Hyporeflexia/areflexia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.285 | HNRNPH1 | Hazel Phillimore reviewed gene: HNRNPH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35989590; Phenotypes: early onset high myopia, blindness; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.18 | TYMS |
Lucy Spencer gene: TYMS was added gene: TYMS was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: TYMS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TYMS were set to 35931051 Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780 Review for gene: TYMS was set to RED Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant. The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance. The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children. Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls. Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4915 | CAPRIN1 | Zornitza Stark Marked gene: CAPRIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4915 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4915 | TMEM163 |
Teresa Zhao gene: TMEM163 was added gene: TMEM163 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to PMID: 35953447 Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy Review for gene: TMEM163 was set to GREEN Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4915 | CAPRIN1 | Zornitza Stark Classified gene: CAPRIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4915 | CAPRIN1 | Zornitza Stark Gene: caprin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.285 | TMEM163 |
Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures and two have ID. Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures. Sources: Literature |
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| Leukodystrophy - paediatric v0.275 | TMEM163 |
Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures and two have ID. Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures. Sources: Literature |
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| Arthrogryposis v0.351 | MET | Zornitza Stark Marked gene: MET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.285 | MET | Zornitza Stark Phenotypes for gene: MET were changed from Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Classified gene: MET as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.284 | MET | Zornitza Stark Publications for gene: MET were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Classified gene: MET as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.351 | MET | Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.283 | MET |
Zornitza Stark changed review comment from: PMID 30777867: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; to: PMID 30777867: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination. AMBER for this association |
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| Mendeliome v1.283 | MET |
Zornitza Stark edited their review of gene: MET: Added comment: PMID 30777867: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination.; Changed publications: 30777867 |
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| Intellectual disability syndromic and non-syndromic v0.4914 | GRIN2A | Zornitza Stark Publications for gene: GRIN2A were set to 30544257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.217 | UCHL1 | Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.283 | TMEM163 |
Teresa Zhao gene: TMEM163 was added gene: TMEM163 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to PMID: 35953447 Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy Review for gene: TMEM163 was set to GREEN Added comment: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures and two have ID. Sources: Literature |
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| Mendeliome v1.283 | LGI3 |
Melanie Marty gene: LGI3 was added gene: LGI3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI3 were set to PMID: 35948005 Phenotypes for gene: LGI3 were set to Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi Review for gene: LGI3 was set to GREEN Added comment: Sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons. Sources: Literature |
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| Genetic Epilepsy v0.1649 | CAPRIN1 |
Paul De Fazio gene: CAPRIN1 was added gene: CAPRIN1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPRIN1 were set to 35979925 Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 Review for gene: CAPRIN1 was set to GREEN gene: CAPRIN1 was marked as current diagnostic Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals). All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity. Sources: Literature |
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| Mendeliome v1.283 | NOTCH1 | Zornitza Stark Phenotypes for gene: NOTCH1 were changed from Adams-Oliver syndrome 5 (MIM#616028) to Adams-Oliver syndrome 5 (MIM#616028); Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.275 | TMEM163 |
Teresa Zhao changed review comment from: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. All have global developmental delay, three of them have seizures and two have ID. Sources: Literature |
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| Mendeliome v1.282 | NOTCH1 | Zornitza Stark Publications for gene: NOTCH1 were set to 25963545; 25132448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.26 | SIX3 | Paul De Fazio reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: 35951005; Phenotypes: Non-acquired combined pituitary hormone deficiency MONDO:0018762; Mode of inheritance: Other; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1649 | GRIN2A | Zornitza Stark Publications for gene: GRIN2A were set to 30544257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.281 | NOTCH1 | Zornitza Stark Mode of pathogenicity for gene: NOTCH1 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.280 | BUD13 | Alison Yeung Marked gene: BUD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.280 | BUD13 | Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.280 | BUD13 | Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.280 | BUD13 | Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1648 | GRIN2A | Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 |
Alison Yeung changed review comment from: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from two Algerian families. Sources: Literature; to: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from only two Algerian families. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4913 | GRIN2A | Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.279 | BUD13 |
Alison Yeung gene: BUD13 was added gene: BUD13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUD13 were set to 35670808 Phenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573 Review for gene: BUD13 was set to AMBER Added comment: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from only two Algerian families. Sources: Literature |
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| Genetic Epilepsy v0.1647 | GRIN2A | Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.278 | GRIN2A | Zornitza Stark Publications for gene: GRIN2A were set to 30544257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.275 | TMEM163 |
Teresa Zhao changed review comment from: Four unrelated with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. Sources: Literature; to: Four unrelated families with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. Sources: Literature |
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| Regression v0.499 | UCHL1 | Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.275 | TMEM163 |
Teresa Zhao gene: TMEM163 was added gene: TMEM163 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to PMID: 35953447 Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy Review for gene: TMEM163 was set to GREEN Added comment: Four unrelated with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. Sources: Literature |
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| Mendeliome v1.277 | GRIN2A | Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 | Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 | Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.216 | UCHL1 | Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905; 35986737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 | Alison Yeung Marked gene: BUD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 | Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.216 | UCHL1 | Zornitza Stark Publications for gene: UCHL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 | Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.7 | BUD13 | Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.216 | UCHL1 | Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.498 | UCHL1 | Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.275 | NOTCH1 |
Chern Lim gene: NOTCH1 was added gene: NOTCH1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 35947102 Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Mode of pathogenicity for gene: NOTCH1 was set to Other Review for gene: NOTCH1 was set to GREEN gene: NOTCH1 was marked as current diagnostic Added comment: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature |
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| Mendeliome v1.276 | SAT1 | Ee Ming Wong reviewed gene: SAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35977808; Phenotypes: Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.215 | UCHL1 | Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.6 | BUD13 |
Alison Yeung gene: BUD13 was added gene: BUD13 was added to Lipodystrophy_Lipoatrophy. Sources: Literature Mode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUD13 were set to 35670808 Phenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573 Review for gene: BUD13 was set to AMBER Added comment: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13. Individuals from two Algerian families. Sources: Literature |
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| Leukodystrophy - adult onset v0.103 | NOTCH1 |
Chern Lim gene: NOTCH1 was added gene: NOTCH1 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 35947102 Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Mode of pathogenicity for gene: NOTCH1 was set to Other Review for gene: NOTCH1 was set to GREEN gene: NOTCH1 was marked as current diagnostic Added comment: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature |
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| Regression v0.497 | UCHL1 | Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.496 | UCHL1 | Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.495 | UCHL1 | Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.134 | UCHL1 | Zornitza Stark Marked gene: UCHL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.134 | UCHL1 | Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.134 | UCHL1 | Zornitza Stark Classified gene: UCHL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.134 | UCHL1 | Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.47 | NOTCH1 |
Chern Lim gene: NOTCH1 was added gene: NOTCH1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 35947102 Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Mode of pathogenicity for gene: NOTCH1 was set to Other Review for gene: NOTCH1 was set to GREEN gene: NOTCH1 was marked as current diagnostic Added comment: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature |
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| Hereditary Neuropathy - complex v0.133 | UCHL1 |
Zornitza Stark gene: UCHL1 was added gene: UCHL1 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UCHL1 were set to 35986737 Phenotypes for gene: UCHL1 were set to Neurodegenerative disease, MONDO:0005559, UCHL1-related Review for gene: UCHL1 was set to GREEN Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17). Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4912 | NOTCH1 |
Chern Lim changed review comment from: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature; to: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. |
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| Mendeliome v1.276 | NOTCH1 |
Chern Lim changed review comment from: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Missense and small inframe insertion variants in the negative regulatory region.; to: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. |
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| Hereditary Spastic Paraplegia - adult onset v1.1 | NOTCH1 |
Chern Lim gene: NOTCH1 was added gene: NOTCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 35947102 Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Mode of pathogenicity for gene: NOTCH1 was set to Other Review for gene: NOTCH1 was set to GREEN gene: NOTCH1 was marked as current diagnostic Added comment: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature |
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| Hereditary Spastic Paraplegia - paediatric v1.47 | UCHL1 | Zornitza Stark Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209 to Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.46 | UCHL1 | Zornitza Stark Publications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.45 | UCHL1 | Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.44 | UCHL1 | Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.9 | UCHL1 | Zornitza Stark Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4912 | CEP104 | Belinda Chong reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 34196201, 35359234; Phenotypes: CEP104 Neurodevelopmental disorder, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.8 | UCHL1 | Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.7 | UCHL1 | Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007905, 23359680, 11555633, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.343 | UCHL1 | Zornitza Stark Phenotypes for gene: UCHL1 were changed from Early onset ataxia and optic neuropathy; Autosomal recessive spastic paraplegia 79, 615491 to Spastic paraplegia 79, autosomal recessive, MIM#615491; Neurodegenerative disease, MONDO:0005559, UCHL1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.342 | UCHL1 | Zornitza Stark Publications for gene: UCHL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.350 | ADAMTS15 |
Naomi Baker changed review comment from: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature; to: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature |
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| Ataxia - paediatric v0.341 | UCHL1 | Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.340 | UCHL1 | Zornitza Stark edited their review of gene: UCHL1: Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).; Changed publications: 28007905, 23359680, 11555633, 35986737; Changed phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.276 | ADAMTS15 |
Naomi Baker changed review comment from: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature; to: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: contractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4912 | NOTCH1 |
Chern Lim gene: NOTCH1 was added gene: NOTCH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 35947102 Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Mode of pathogenicity for gene: NOTCH1 was set to Other Review for gene: NOTCH1 was set to GREEN gene: NOTCH1 was marked as current diagnostic Added comment: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature |
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| Diamond Blackfan anaemia v1.3 | GATA1 |
Daniel Flanagan gene: GATA1 was added gene: GATA1 was added to Diamond Blackfan anaemia. Sources: Expert list Mode of inheritance for gene: GATA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA1 were set to PMID: 36029112 Phenotypes for gene: GATA1 were set to Diamond-Blackfan anemia (MONDO:0015253) Review for gene: GATA1 was set to GREEN Added comment: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.4912 | LGI3 |
Melanie Marty changed review comment from: Six individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons. Sources: Literature; to: Sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons. Sources: Literature |
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| Mendeliome v1.276 | ADAMTS15 |
Naomi Baker gene: ADAMTS15 was added gene: ADAMTS15 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to PMID: 35962790 Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related Review for gene: ADAMTS15 was set to GREEN Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature |
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| Mendeliome v1.276 | NOTCH1 | Chern Lim edited their review of gene: NOTCH1: Changed phenotypes: Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4912 | LGI3 |
Melanie Marty gene: LGI3 was added gene: LGI3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI3 were set to PMID: 35948005 Phenotypes for gene: LGI3 were set to Global developmental delay; Intellectual disability; Distal deformities; Diminished reflexes; Facial myokymia; Hyporeflexia/areflexi Review for gene: LGI3 was set to GREEN Added comment: Six individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. Lgi3-null mice showed reduced and mis-local-ized Kv1 channel complexes in myelinated peripheral axons. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4912 | GRIN2A | Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1646 | GRIN2A | Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.350 | ADAMTS15 |
Naomi Baker gene: ADAMTS15 was added gene: ADAMTS15 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to PMID: 35962790 Phenotypes for gene: ADAMTS15 were set to Arthrogryposis (MONDO:0008779), ADMATS15-related Review for gene: ADAMTS15 was set to GREEN Added comment: PMID: 35962790; Four different homozygous variants identified in five affected individuals from four unrelated consanguineous families presenting with congenital flexion contractures of the interphalangeal joints and hypoplastic or absent palmar creases. All patients also had a mild appearance of fetal finger pads and clinodactyly of the fifth finger. Other reported phenotypes include: ontractures of knee, Achilles tendon, and ankle (4/5), spine involvement (kyphoscoliosis and/or spinal stiffness) (4/5), and orthodontic features (small mouth, dental crowding, missing teeth, or arched palate) (4/5). Sources: Literature |
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| Mendeliome v1.276 | CAPRIN1 |
Paul De Fazio gene: CAPRIN1 was added gene: CAPRIN1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPRIN1 were set to 35979925 Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 Review for gene: CAPRIN1 was set to GREEN gene: CAPRIN1 was marked as current diagnostic Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals). All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4912 | CAPRIN1 |
Paul De Fazio gene: CAPRIN1 was added gene: CAPRIN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPRIN1 were set to 35979925 Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 Review for gene: CAPRIN1 was set to GREEN gene: CAPRIN1 was marked as current diagnostic Added comment: 12 individuals reported with ID and language impairment. Other features included seizures (4 individuals), hands and feet malformations (5 individuals), breathing problems (6 individuals), ocular problems (4 individuals) and hearing problems (3 individuals). All of the variants were nonsense (NMD-predicted) or splicing variants. 10 were de novo, 1 was inherited from an affected father. Functional studies supported pathogenicity. Sources: Literature |
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| Arthrogryposis v0.350 | MET |
Lucy Spencer gene: MET was added gene: MET was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MET were set to 30777867 Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 11 (MIM#620019), AD Review for gene: MET was set to AMBER Added comment: Four-generation Chinese arthrogryposis pedigree with only upper limb involvement. MET c.3701A>G p.Y1234C segregated as heterozygous in 11 affected family members and was absent from 12 unaffected family members. Variant is absent from gnomad. Functional studies showed this variant caused failure of phosphorylation and loss of tyrosine kinase activity of MET receptor. A mouse model was also created with this variant, mutated mice were found to be smaller than WT mice and had reduced myofibres. These mouse models also had defective migration of muscle progenitor cells and impaired proliferation of secondary myoblasts. Phenotypes in this family included camptodactyly, absent flexion crease, and limited forearm supination. Sources: Literature |
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| Mendeliome v1.276 | LHX8 |
Alison Yeung gene: LHX8 was added gene: LHX8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LHX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX8 were set to 36029299 Phenotypes for gene: LHX8 were set to Inherited premature ovarian failure, MONDO:0019852, LHX8-related Review for gene: LHX8 was set to GREEN Added comment: Heterozygous LOF variants identified in 6 families with premature ovarian failure due to oocyte maturation arrest. Sources: Literature |
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| Mendeliome v1.275 | NOTCH1 | Chern Lim reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35947102; Phenotypes: leukoencephalopathy and calcifications; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 | LHX8 | Alison Yeung Publications for gene: LHX8 were set to 34794894; 34095689; 29329412; 27603904 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 | LHX8 | Alison Yeung Classified gene: LHX8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.305 | LHX8 | Alison Yeung Gene: lhx8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.304 | LHX8 | Alison Yeung reviewed gene: LHX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 36029299; Phenotypes: Inherited premature ovarian failure, MONDO:0019852, LHX8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.275 | GRIN2A | Teresa Zhao reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983985; Phenotypes: Epilepsy, focal, with speech disorder and with or without impaired intellectual development (MIM#245570); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.275 | LEF1 | Zornitza Stark Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.72 | LEF1 | Zornitza Stark Publications for gene: LEF1 were set to PMID: 32022899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.274 | LEF1 | Zornitza Stark Publications for gene: LEF1 were set to 32022899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.273 | LEF1 | Zornitza Stark Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.71 | LEF1 | Zornitza Stark Mode of inheritance for gene: LEF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.272 | LEF1 | Zornitza Stark Classified gene: LEF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.272 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.271 | LEF1 | Zornitza Stark edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.70 | LEF1 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.70 | LEF1 | Zornitza Stark Phenotypes for gene: LEF1 were changed from Ectodermal dysplasia, no OMIM# yet to Syndromic disease, MONDO:0002254, LEF1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.69 | LEF1 | Zornitza Stark Classified gene: LEF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.69 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.260 | LEF1 | Zornitza Stark Classified gene: LEF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.260 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.68 | LEF1 | Zornitza Stark edited their review of gene: LEF1: Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype.; Changed rating: GREEN; Changed publications: 32022899, 35583550; Changed phenotypes: Syndromic disease, MONDO:0002254, LEF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.259 | LEF1 | Zornitza Stark Classified gene: LEF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.259 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.258 | LEF1 | Zornitza Stark Marked gene: LEF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.258 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.258 | LEF1 |
Zornitza Stark gene: LEF1 was added gene: LEF1 was added to Polydactyly. Sources: Literature Mode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LEF1 were set to 35583550 Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related Review for gene: LEF1 was set to GREEN Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype. Sources: Literature |
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| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Marked gene: LEF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Classified gene: LEF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.4 | LEF1 | Zornitza Stark Gene: lef1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.3 | LEF1 |
Zornitza Stark gene: LEF1 was added gene: LEF1 was added to Radial Ray Abnormalities. Sources: Literature Mode of inheritance for gene: LEF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LEF1 were set to 35583550 Phenotypes for gene: LEF1 were set to Syndromic disease, MONDO:0002254, LEF1-related Review for gene: LEF1 was set to GREEN Added comment: Monoallelic variants in LEF1 reported in 11 affected individuals from 4 unrelated families, and a biallelic variant reported in an affected individual from a consanguineous family. The phenotypic spectrum included various limb malformations, such as radial ray defects, polydactyly or split hand/foot, and ectodermal dysplasia. Haploinsufficiency or loss of DNA binding postulated to be responsible for a mild to moderate phenotype, whereas loss of β-catenin binding caused by biallelic variants postulated to be associated with a severe phenotype. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4911 | Zornitza Stark List of related panels changed from to Intellectual disability; HP:0001249; Neurodevelopmental delay; HP:0012758 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.18 | REEP1 | Zornitza Stark Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT - isolated v1.17 | REEP1 | Zornitza Stark reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.271 | REEP1 | Zornitza Stark Phenotypes for gene: REEP1 were changed from Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy to Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.270 | REEP1 | Zornitza Stark reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.340 | Zornitza Stark HPO terms changed from to Ataxia, HP:0001251 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - adult onset v0.170 | Zornitza Stark HPO terms changed from to Ataxia, HP:0001251 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.350 | Zornitza Stark HPO terms changed from to Flexion contracture, HP:0001371 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.69 | Zornitza Stark HPO terms changed from to Aortic aneurysm, HP:0004942;Joint dislocation, HP:0001373;Cutis laxa, HP:0000973; Ectopia lentis, HP:0001083;Arachnodactyly, HP:0001166 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Anophthalmia_Microphthalmia_Coloboma v1.29 | Zornitza Stark HPO terms changed from to Anophthalmia, HP:0000528;Microphthalmia, HP:0000568;Coloboma, HP:0000589 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Achromatopsia v1.4 | Zornitza Stark HPO terms changed from to Achromatopsia, HP:0011516 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.275 | Zornitza Stark HPO terms changed from to Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - adult onset v0.103 | Zornitza Stark HPO terms changed from to Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1646 | Zornitza Stark HPO terms changed from to Seizure, HP:0001250 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4910 | Zornitza Stark HPO terms changed from to Intellectual disability, HP:0001249; Neurodevelopmental delay, HP:0012758 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.34 | TMEM218 | Zornitza Stark Marked gene: TMEM218 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.34 | TMEM218 | Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.34 | TMEM218 | Zornitza Stark Classified gene: TMEM218 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.34 | TMEM218 | Zornitza Stark Gene: tmem218 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.33 | TMEM218 |
Zornitza Stark gene: TMEM218 was added gene: TMEM218 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 35137054; 33791682 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele Review for gene: TMEM218 was set to GREEN Added comment: More than 3 unrelated families reported, with a range of ciliopathy phenotypes, including Joubert syndrome, MKS and BBS. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.4909 | LNPK | Zornitza Stark Publications for gene: LNPK were set to 30032983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.44 | CCDC82 | Zornitza Stark Marked gene: CCDC82 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.44 | CCDC82 | Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.44 | CCDC82 | Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.43 | CCDC82 | Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.42 | CCDC82 | Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4908 | CCDC82 | Zornitza Stark Marked gene: CCDC82 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4908 | CCDC82 | Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4908 | CCDC82 | Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4907 | CCDC82 | Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4906 | CCDC82 | Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.270 | CCDC82 | Zornitza Stark Marked gene: CCDC82 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.270 | CCDC82 | Zornitza Stark Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.270 | CCDC82 | Zornitza Stark Phenotypes for gene: CCDC82 were changed from Intellectual disability and spastic paraparesis, no OMIM # to Neurodevelopmental disorder, MONDO:0700092, CCDC82-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.269 | CCDC82 | Zornitza Stark Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.268 | CCDC82 | Zornitza Stark reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CCDC82-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.63 | NPNT | Zornitza Stark Marked gene: NPNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.63 | NPNT | Zornitza Stark Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.63 | NPNT | Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.62 | NPNT | Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.61 | NPNT | Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.268 | NPNT | Zornitza Stark Marked gene: NPNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.268 | NPNT | Zornitza Stark Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.268 | NPNT | Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.267 | NPNT | Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.266 | NPNT | Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 | NPNT | Zornitza Stark Marked gene: NPNT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 | NPNT | Zornitza Stark Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 | NPNT | Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.108 | NPNT | Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 | NPNT | Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.184 | KIF5B | Zornitza Stark Marked gene: KIF5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.184 | KIF5B | Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.184 | KIF5B | Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.183 | KIF5B | Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230, KIF5B-related, Kyphomelic dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.266 | KIF5B | Zornitza Stark Phenotypes for gene: KIF5B were changed from Skeletal dysplasia, MONDO:0018230 to Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.265 | KIF5B | Zornitza Stark Marked gene: KIF5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.265 | KIF5B | Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.265 | KIF5B | Zornitza Stark Phenotypes for gene: KIF5B were changed from Kyphomelic dysplasia, no OMIM # to Skeletal dysplasia, MONDO:0018230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.264 | KIF5B | Zornitza Stark reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia, MONDO:0018230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.184 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome; Cleft palate to Stickler syndrome, type VI, MIM# 620022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.183 | COL9A3 | Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.4 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome, AR; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Stickler syndrome, type VI, MIM# 620022; Deafness, AD; Peripheral vitreoretinal degeneration and retinal detachment, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler Syndrome v1.3 | COL9A3 | Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022, Deafness, AD, Peripheral vitreoretinal degeneration and retinal detachment, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.144 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Stickler syndrome to Stickler syndrome, type VI, MIM# 620022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.143 | COL9A3 | Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Stickler syndrome, type VI, MIM# 620022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.264 | COL9A3 | Zornitza Stark Phenotypes for gene: COL9A3 were changed from Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome AR; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD to Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969; Stickler syndrome, type VI, MIM# 620022; Deafness AD; Peripheral vitreoretinal degeneration and retinal detachment, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.263 | COL9A3 | Zornitza Stark edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy, MIM# 600969, Stickler syndrome, type VI, MIM# 620022, Deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.263 | LNPK | Chirag Patel Classified gene: LNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.263 | LNPK | Chirag Patel Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.462 | LNPK | Chirag Patel Classified gene: LNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.462 | LNPK | Chirag Patel Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.462 | LNPK | Chirag Patel Classified gene: LNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.462 | LNPK | Chirag Patel Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1645 | LNPK | Chirag Patel Classified gene: LNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1645 | LNPK | Chirag Patel Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4906 | LNPK | Chirag Patel Classified gene: LNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4906 | LNPK | Chirag Patel Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.461 | LNPK |
Chirag Patel gene: LNPK was added gene: LNPK was added to Callosome. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to PMID: 35599435, 30032983 Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Review for gene: LNPK was set to GREEN Added comment: 3 unrelated consanguineous families with 4 affected individuals reported. WES revealed 3 novel homozygous frameshift variants in exon 10 of the LNPK gene (detected as a heterozygote in healthy parents). Some functional evidence with mRNA expression decreased in the fibroblast tissues of the affected individuals with homozygous variants and healthy heterozygous parents, with a greater rate in individuals with homozygous variants. There was no full-length protein in the affected individuals with homozygous variants detected using immunohistochemical studies. Common clinical manifestations in all cases included developmental delay, movement disorders, epilepsy, corpus callosum anomalies, and regression phenotype. Sources: Literature |
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| Mendeliome v1.262 | LNPK | Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1644 | LNPK | Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4905 | LNPK | Chirag Patel reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4905 | CCDC82 | Chirag Patel Classified gene: CCDC82 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4905 | CCDC82 | Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4905 | CCDC82 | Chirag Patel Classified gene: CCDC82 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4905 | CCDC82 | Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.42 | CCDC82 | Chirag Patel Classified gene: CCDC82 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.42 | CCDC82 | Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4904 | CCDC82 |
Chirag Patel gene: CCDC82 was added gene: CCDC82 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812 Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM # Review for gene: CCDC82 was set to GREEN Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies. Sources: Literature |
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| Mendeliome v1.262 | CCDC82 | Chirag Patel Classified gene: CCDC82 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.262 | CCDC82 | Chirag Patel Gene: ccdc82 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.41 | CCDC82 |
Chirag Patel gene: CCDC82 was added gene: CCDC82 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812 Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM # Review for gene: CCDC82 was set to GREEN Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies. Sources: Literature |
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| Mendeliome v1.261 | CCDC82 |
Chirag Patel gene: CCDC82 was added gene: CCDC82 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC82 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC82 were set to PMID: 35373332, 35118659, 27457812 Phenotypes for gene: CCDC82 were set to Intellectual disability and spastic paraparesis, no OMIM # Review for gene: CCDC82 was set to GREEN Added comment: 4 consanguineous families with 9 affected individuals with developmental delay/intellectual disability, and 2 families had spasticity and 1 had epilepsy. WES identified 3 homozgyous truncating variants, segregating with disease and parents as carriers. No functional studies. Sources: Literature |
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| Mendeliome v1.260 | NPNT | Chirag Patel Classified gene: NPNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.260 | NPNT | Chirag Patel Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.260 | NPNT | Chirag Patel Classified gene: NPNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.260 | NPNT | Chirag Patel Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.259 | NPNT |
Chirag Patel gene: NPNT was added gene: NPNT was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM # Review for gene: NPNT was set to GREEN Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models. Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 | NPNT | Chirag Patel Classified gene: NPNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 | NPNT | Chirag Patel Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 | NPNT | Chirag Patel Classified gene: NPNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 | NPNT | Chirag Patel Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.61 | NPNT | Chirag Patel Classified gene: NPNT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.61 | NPNT | Chirag Patel Gene: npnt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.60 | NPNT |
Chirag Patel gene: NPNT was added gene: NPNT was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM # Review for gene: NPNT was set to GREEN Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models. Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.106 | NPNT |
Chirag Patel gene: NPNT was added gene: NPNT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792 Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM # Review for gene: NPNT was set to GREEN Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models. Sources: Literature |
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| Mendeliome v1.258 | KIF5B | Chirag Patel Classified gene: KIF5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.258 | KIF5B | Chirag Patel Gene: kif5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.258 | KIF5B | Chirag Patel Classified gene: KIF5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.258 | KIF5B | Chirag Patel Gene: kif5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.257 | KIF5B |
Chirag Patel gene: KIF5B was added gene: KIF5B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to PMID: 35342932 Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM # Review for gene: KIF5B was set to GREEN Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. Sources: Literature |
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| Fetal anomalies v1.59 | KIF5B | Chirag Patel Classified gene: KIF5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.59 | KIF5B | Chirag Patel Gene: kif5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.58 | KIF5B |
Chirag Patel gene: KIF5B was added gene: KIF5B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to PMID: 35342932 Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM # Review for gene: KIF5B was set to GREEN Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. Sources: Literature |
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| Skeletal dysplasia v0.183 | KIF5B | Chirag Patel Classified gene: KIF5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.183 | KIF5B | Chirag Patel Gene: kif5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.182 | KIF5B |
Chirag Patel gene: KIF5B was added gene: KIF5B was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to PMID: 35342932 Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM # Review for gene: KIF5B was set to GREEN Added comment: 4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants. Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4903 | FBXW7 | Zornitza Stark Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome to Developmental delay, hypotonia, and impaired language, MIM# 620012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4902 | FBXW7 | Zornitza Stark edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.256 | FBXW7 | Zornitza Stark Phenotypes for gene: FBXW7 were changed from neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058 to Developmental delay, hypotonia, and impaired language, MIM# 620012; Wilms tumour predisposition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.255 | FBXW7 | Zornitza Stark edited their review of gene: FBXW7: Changed phenotypes: Developmental delay, hypotonia, and impaired language, MIM# 620012, Wilms tumour predisposition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.167 | VPS13A | Zornitza Stark Marked gene: VPS13A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.167 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.167 | VPS13A | Zornitza Stark Publications for gene: VPS13A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.166 | VPS13A | Zornitza Stark Classified gene: VPS13A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.166 | VPS13A | Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.165 | VPS13A | Zornitza Stark Tag for review was removed from gene: VPS13A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.165 | VPS13A | Zornitza Stark changed review comment from: Appears to be adult onset disorder. For further review.; to: Appears to be adult onset disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.165 | VPS13A | Zornitza Stark edited their review of gene: VPS13A: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.165 | RYR1 | Zornitza Stark Publications for gene: RYR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.164 | RYR1 | Zornitza Stark Tag for review was removed from gene: RYR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.164 | RYR1 | Zornitza Stark commented on gene: RYR1: Hard to predict outcome in a screening context. However, multiple reports of severe perinatal outcomes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.164 | TFR2 | Zornitza Stark Marked gene: TFR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.164 | TFR2 | Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.164 | TFR2 | Zornitza Stark Phenotypes for gene: TFR2 were changed from Hemochromatosis, type 3, MIM#604250 to Haemochromatosis, type 3, MIM#604250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.163 | TFR2 | Zornitza Stark Classified gene: TFR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.163 | TFR2 | Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | TFR2 | Zornitza Stark Tag for review was removed from gene: TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | TFR2 | Zornitza Stark reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, type 3, MIM#604250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | TAT | Zornitza Stark reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | PYGM | Zornitza Stark Marked gene: PYGM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | PYGM | Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | SLC12A3 | Zornitza Stark Marked gene: SLC12A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | SLC12A3 | Zornitza Stark Gene: slc12a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | PYGM | Zornitza Stark Classified gene: PYGM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | PYGM | Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Marked gene: SLC4A11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | PYGM | Zornitza Stark Tag for review was removed from gene: PYGM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Classified gene: SLC4A11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.161 | SLC4A11 | Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | SLC4A11 | Zornitza Stark Tag for review was removed from gene: SLC4A11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | SLC4A11 | Zornitza Stark reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | OAT | Zornitza Stark Marked gene: OAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | OAT | Zornitza Stark Gene: oat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | SLC12A3 | Zornitza Stark Classified gene: SLC12A3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.160 | SLC12A3 | Zornitza Stark Gene: slc12a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | SLC12A3 | Zornitza Stark Tag for review was removed from gene: SLC12A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | SLC12A3 | Zornitza Stark reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM#263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | RS1 | Zornitza Stark Marked gene: RS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | RS1 | Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | OAT | Zornitza Stark Classified gene: OAT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.159 | OAT | Zornitza Stark Gene: oat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.158 | RS1 | Zornitza Stark Classified gene: RS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.158 | RS1 | Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | RS1 | Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis (MIM#312700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Marked gene: NR2E3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | PYGM | Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease (MIM#232600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | OAT | Zornitza Stark reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, MIM# 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Classified gene: NR2E3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.157 | NR2E3 | Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.156 | NR2E3 | Zornitza Stark reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.156 | Zornitza Stark Panel name changed from Reproductive Carrier Screen_VCGS to Prepair 1000+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.495 | CC2D2A | Zornitza Stark Marked gene: CC2D2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.495 | CC2D2A | Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.495 | CC2D2A | Zornitza Stark Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.494 | CC2D2A | Zornitza Stark Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.493 | CC2D2A | Zornitza Stark Classified gene: CC2D2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.493 | CC2D2A | Zornitza Stark Gene: cc2d2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.492 | CC2D2A | Zornitza Stark reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | RPGR | Zornitza Stark Tag for review tag was added to gene: RPGR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.57 | MDFIC | Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.56 | MDFIC | Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 12, MIM# 620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.255 | MDFIC | Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.254 | MDFIC | Zornitza Stark reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphatic malformation 12, MIM# 620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.291 | MDFIC | Zornitza Stark Phenotypes for gene: MDFIC were changed from Hydrops fetalis MONDO:0015193 to Lymphatic malformation 12, MIM# 620014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.290 | MDFIC | Zornitza Stark edited their review of gene: MDFIC: Changed phenotypes: Lymphatic malformation 12, MIM# 620014; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.272 | ACADS | Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.271 | ACADS | Zornitza Stark Classified gene: ACADS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.271 | ACADS | Zornitza Stark Gene: acads has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.270 | ACADS | Zornitza Stark changed review comment from: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. Some mildly affected individuals are being identified as part of newborn screening programs. However, a diagnosis of this disorder has the potential for avoidance of unnecessary investigations, therefore promoted to Green.; to: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.270 | ACADS | Zornitza Stark edited their review of gene: ACADS: Added comment: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4902 | ACADS | Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4902 | ACADS | Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4901 | ACADS | Zornitza Stark changed review comment from: Definitive by ClinGen. Metabolic decompensation. DD/ID is a feature.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated. DD/ID reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4901 | ACADS | Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.460 | ACADS | Zornitza Stark Marked gene: ACADS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.460 | ACADS | Zornitza Stark Gene: acads has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.460 | ACADS | Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.459 | ACADS | Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.458 | ACADS | Zornitza Stark Classified gene: ACADS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.458 | ACADS | Zornitza Stark Gene: acads has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.457 | ACADS | Zornitza Stark reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.834 | ACADS | Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.833 | ACADS | Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.833 | ACADS | Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.832 | ACADS | Zornitza Stark reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.254 | ACADS | Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.254 | ACADS | Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.253 | ACADS | Zornitza Stark changed review comment from: Definitive by ClinGen.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.8 | ACADS | Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.8 | ACADS | Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.253 | ACADS | Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.7 | ACADS | Zornitza Stark changed review comment from: Definitive by ClinGen.; to: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fatty Acid Oxidation Defects v1.7 | ACADS | Zornitza Stark edited their review of gene: ACADS: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.234 | FOCAD |
Zornitza Stark changed review comment from: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991). Sources: Expert Review; to: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991). Cholestasis is a feature. Sources: Expert Review |
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| Cholestasis v0.234 | FOCAD | Zornitza Stark Marked gene: FOCAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.234 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.234 | FOCAD | Zornitza Stark Classified gene: FOCAD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.234 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.233 | FOCAD |
Zornitza Stark gene: FOCAD was added gene: FOCAD was added to Cholestasis. Sources: Expert Review Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOCAD were set to 35864190 Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991 Review for gene: FOCAD was set to GREEN Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991). Sources: Expert Review |
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| Mendeliome v1.253 | FOCAD | Zornitza Stark Marked gene: FOCAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.253 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.253 | FOCAD | Zornitza Stark Classified gene: FOCAD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.253 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.252 | FOCAD |
Zornitza Stark gene: FOCAD was added gene: FOCAD was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOCAD were set to 35864190 Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991 Review for gene: FOCAD was set to GREEN Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991). Sources: Expert Review |
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| Liver Failure_Paediatric v1.19 | FOCAD | Zornitza Stark Phenotypes for gene: FOCAD were changed from Infantile liver failure, MONDO:0000023, FOCAD-related to Liver disease, severe congenital, MIM# 619991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark edited their review of gene: FOCAD: Changed phenotypes: Liver disease, severe congenital, MIM# 619991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark Marked gene: FOCAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark Phenotypes for gene: FOCAD were changed from pediatric syndromic liver cirrhosis to Infantile liver failure, MONDO:0000023, FOCAD-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.17 | FOCAD | Zornitza Stark Mode of pathogenicity for gene: FOCAD was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.16 | FOCAD | Zornitza Stark Classified gene: FOCAD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.16 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.15 | FOCAD | Zornitza Stark reviewed gene: FOCAD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile liver failure, MONDO:0000023, FOCAD-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.56 | SETD5 | Zornitza Stark Mode of inheritance for gene: SETD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.55 | SETD5 | Zornitza Stark reviewed gene: SETD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, autosomal dominant 23 (MIM # 615761); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Marked gene: SETD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Classified gene: SETD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v1.10 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.15 | FOCAD |
Suliman Khan changed review comment from: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of this RNA helicase (OMIM: 619991). Sources: Literature; to: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991). Sources: Literature, OMIM |
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| Liver Failure_Paediatric v1.15 | FOCAD |
Suliman Khan gene: FOCAD was added gene: FOCAD was added to Liver Failure_Paediatric. Sources: Literature Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOCAD were set to PMID: 35864190 Phenotypes for gene: FOCAD were set to pediatric syndromic liver cirrhosis Penetrance for gene: FOCAD were set to Complete Mode of pathogenicity for gene: FOCAD was set to Other Review for gene: FOCAD was set to GREEN gene: FOCAD was marked as current diagnostic Added comment: Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of this RNA helicase (OMIM: 619991). Sources: Literature |
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| Congenital diaphragmatic hernia v1.9 | SETD5 |
Elena Savva gene: SETD5 was added gene: SETD5 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SETD5 were set to PMID: 28263952; 24680889 Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23 MIM#615761 Review for gene: SETD5 was set to GREEN Added comment: Internal VCGS patient with a de novo PTC, p.Lys766Glufs*35, and features including diaphragmatic hernia and ID. PMID: 28263952 - describes an additional patient with a PTC, with diaphragmatic hernia and severe cerebral cortical dysplasia PMID: 24680889 - 2 reported children with PTCs had inguinal hernia, 1 had paraumbilical hernia Sources: Literature |
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| Vascular Malformations SuperPanel v1.14 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | RPGR | Crystle Lee reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: None; Publications: 12657579, 30193314; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | RYR1 | Lilian Downie reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.251 | TAF4 | Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, TAF4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.250 | TAF4 | Zornitza Stark Publications for gene: TAF4 were set to 33875846; 28191890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.249 | TAF4 | Zornitza Stark Classified gene: TAF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.249 | TAF4 | Zornitza Stark Gene: taf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.248 | TAF4 | Zornitza Stark edited their review of gene: TAF4: Changed rating: GREEN; Changed publications: 33875846, 28191890, 35904126; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4901 | TAF4 | Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, TAF4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4900 | TAF4 | Zornitza Stark Publications for gene: TAF4 were set to 33875846; 28191890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4899 | TAF4 | Zornitza Stark Classified gene: TAF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4899 | TAF4 | Zornitza Stark Gene: taf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1644 | ZMYND8 | Zornitza Stark Marked gene: ZMYND8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1644 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1644 | ZMYND8 | Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1644 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1643 | ZMYND8 |
Zornitza Stark gene: ZMYND8 was added gene: ZMYND8 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND8 were set to 35916866; 32530565 Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures Review for gene: ZMYND8 was set to GREEN Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565). Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11). As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression. The protein is broadly expressed in brain and shows highest expression in early development. Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain). Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning. Sources: Expert Review |
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| Fetal anomalies v1.55 | ZMYND8 | Zornitza Stark Marked gene: ZMYND8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.55 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.55 | ZMYND8 | Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.55 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.54 | ZMYND8 |
Zornitza Stark gene: ZMYND8 was added gene: ZMYND8 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND8 were set to 35916866; 32530565 Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures Review for gene: ZMYND8 was set to GREEN Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565). Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11). As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression. The protein is broadly expressed in brain and shows highest expression in early development. Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain). Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning. Sources: Expert Review |
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| Congenital Heart Defect v0.261 | ZMYND8 | Zornitza Stark Marked gene: ZMYND8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.261 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.261 | ZMYND8 | Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.261 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.260 | ZMYND8 |
Zornitza Stark gene: ZMYND8 was added gene: ZMYND8 was added to Congenital Heart Defect. Sources: Expert Review Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND8 were set to 35916866; 32530565 Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures Review for gene: ZMYND8 was set to GREEN Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565). Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11). As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression. The protein is broadly expressed in brain and shows highest expression in early development. Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain). Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning. Sources: Expert Review |
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| Mendeliome v1.248 | ZMYND8 | Zornitza Stark Marked gene: ZMYND8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.248 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.248 | ZMYND8 | Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.248 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.247 | ZMYND8 |
Zornitza Stark gene: ZMYND8 was added gene: ZMYND8 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND8 were set to 35916866; 32530565 Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures Review for gene: ZMYND8 was set to GREEN Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565). Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11). As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression. The protein is broadly expressed in brain and shows highest expression in early development. Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain). Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.4898 | ZMYND8 | Zornitza Stark Marked gene: ZMYND8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4898 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4898 | ZMYND8 | Zornitza Stark Phenotypes for gene: ZMYND8 were changed from Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4897 | ZMYND8 | Zornitza Stark Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4896 | ZMYND8 | Zornitza Stark Classified gene: ZMYND8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4896 | ZMYND8 | Zornitza Stark Gene: zmynd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.26 | TRAC | Zornitza Stark Tag founder tag was added to gene: TRAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.246 | TRAC | Zornitza Stark Tag founder tag was added to gene: TRAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4895 | TAF4 | Konstantinos Varvagiannis reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35904126; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4895 | ZMYND8 |
Konstantinos Varvagiannis gene: ZMYND8 was added gene: ZMYND8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMYND8 were set to 35916866; 32530565 Phenotypes for gene: ZMYND8 were set to Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures Penetrance for gene: ZMYND8 were set to unknown Review for gene: ZMYND8 was set to GREEN Added comment: Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565). Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11). As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression. The protein is broadly expressed in brain and shows highest expression in early development. Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain). Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning. Sources: Literature |
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| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Marked gene: MEFV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.155 | MEFV | Zornitza Stark Mode of inheritance for gene: MEFV was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.154 | MEFV | Zornitza Stark Classified gene: MEFV as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.154 | MEFV | Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | MEFV | Zornitza Stark Tag for review was removed from gene: MEFV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | MEFV | Zornitza Stark reviewed gene: MEFV: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever, AR (MIM#249100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | HOGA1 | Zornitza Stark Marked gene: HOGA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | HOGA1 | Zornitza Stark Gene: hoga1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | HOGA1 | Zornitza Stark Classified gene: HOGA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.153 | HOGA1 | Zornitza Stark Gene: hoga1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.152 | HOGA1 | Zornitza Stark Tag for review was removed from gene: HOGA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.152 | HOGA1 | Zornitza Stark reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type III (MIM#613616); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.152 | GRHPR | Zornitza Stark Marked gene: GRHPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.152 | GRHPR | Zornitza Stark Gene: grhpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.152 | GRHPR | Zornitza Stark Classified gene: GRHPR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.152 | GRHPR | Zornitza Stark Gene: grhpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.151 | GRHPR | Zornitza Stark reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II (MIM#260000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.151 | GJB1 | Zornitza Stark commented on gene: GJB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.151 | GALK1 | Zornitza Stark Marked gene: GALK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.151 | GALK1 | Zornitza Stark Gene: galk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.151 | GALK1 | Zornitza Stark Classified gene: GALK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.151 | GALK1 | Zornitza Stark Gene: galk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.150 | GALK1 | Zornitza Stark Tag for review was removed from gene: GALK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.150 | GALK1 | Zornitza Stark reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts (MIM#230200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.150 | G6PD | Zornitza Stark Marked gene: G6PD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.150 | G6PD | Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.150 | G6PD | Zornitza Stark Phenotypes for gene: G6PD were changed from Hemolytic anemia, G6PD deficient (favism) (MIM#300908) to Haemolytic anaemia, G6PD deficient (favism) (MIM#300908) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.149 | G6PD | Zornitza Stark Mode of inheritance for gene: G6PD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.148 | G6PD | Zornitza Stark Classified gene: G6PD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.148 | G6PD | Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | G6PD | Zornitza Stark Tag for review was removed from gene: G6PD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | G6PD | Zornitza Stark reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anaemia, G6PD deficient (favism) (MIM#300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Marked gene: EYS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Gene: eys has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Classified gene: EYS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.147 | EYS | Zornitza Stark Gene: eys has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | EYS | Zornitza Stark Tag for review was removed from gene: EYS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | EYS | Zornitza Stark reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | CYP21A2 | Zornitza Stark Marked gene: CYP21A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | CYP21A2 | Zornitza Stark Gene: cyp21a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | CYP21A2 | Zornitza Stark Classified gene: CYP21A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.146 | CYP21A2 | Zornitza Stark Gene: cyp21a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.145 | CYP21A2 | Zornitza Stark Tag for review was removed from gene: CYP21A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.145 | CYP21A2 | Zornitza Stark reviewed gene: CYP21A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.145 | CYP11B1 | Zornitza Stark Marked gene: CYP11B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.145 | CYP11B1 | Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.145 | CYP11B1 | Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.145 | CYP11B1 | Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.144 | CYP11B1 | Zornitza Stark reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.144 | CERKL | Zornitza Stark Marked gene: CERKL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.144 | CERKL | Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.144 | CERKL | Zornitza Stark Classified gene: CERKL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.144 | CERKL | Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.143 | CERKL | Zornitza Stark Tag for review was removed from gene: CERKL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.143 | CERKL | Zornitza Stark reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 33322828; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.143 | BTD | Zornitza Stark Marked gene: BTD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.143 | BTD | Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.143 | BTD | Zornitza Stark Classified gene: BTD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.143 | BTD | Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.142 | BTD | Zornitza Stark reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency (MIM#253260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.246 | TRAC | Seb Lunke Classified gene: TRAC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.246 | TRAC | Seb Lunke Added comment: Comment on list classification: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001) Also note annotation issues in certain variant curation and annotation tools. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.246 | TRAC | Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.142 | AIRE | Zornitza Stark Marked gene: AIRE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.142 | AIRE | Zornitza Stark Gene: aire has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.142 | AIRE | Zornitza Stark Publications for gene: AIRE were set to 35521792; 28323927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.141 | AIRE | Zornitza Stark Classified gene: AIRE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.141 | AIRE | Zornitza Stark Gene: aire has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | AIRE | Zornitza Stark Tag for review was removed from gene: AIRE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.26 | TRAC | Seb Lunke Classified gene: TRAC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.26 | TRAC | Seb Lunke Gene: trac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | AIRE | Zornitza Stark reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.25 | TRAC | Seb Lunke reviewed gene: TRAC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | C8B | Zornitza Stark Tag for review was removed from gene: C8B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | TRAC | Zornitza Stark Marked gene: TRAC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | TRAC | Zornitza Stark Gene: trac has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | TRAC | Zornitza Stark Tag for review was removed from gene: TRAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | RPL10 | Zornitza Stark Tag for review was removed from gene: RPL10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | RPL10 | Zornitza Stark Marked gene: RPL10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | RPL10 | Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.140 | RPL10 | Zornitza Stark Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 (MIM#300998) to Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.139 | RPL10 | Zornitza Stark Publications for gene: RPL10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.138 | TRAC | Zornitza Stark Classified gene: TRAC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.138 | TRAC | Zornitza Stark Gene: trac has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.137 | TRAC | Zornitza Stark reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient (MIM#615387); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.137 | RPL10 | Zornitza Stark Classified gene: RPL10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.137 | RPL10 | Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | RPL10 | Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | AIRE | Crystle Lee edited their review of gene: AIRE: Changed publications: 35521792, 28323927, 33352647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | VPS13A | Zornitza Stark reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29518281; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | RYR1 | Zornitza Stark Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | RYR1 | Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.136 | RYR1 | Zornitza Stark Phenotypes for gene: RYR1 were changed from Minicore myopathy with external ophthalmoplegia, 255320 (3) to Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | RYR1 | Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000, Central core disease, MIM# 117000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PROC | Zornitza Stark Marked gene: PROC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PROC | Zornitza Stark Gene: proc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PROC | Zornitza Stark Tag for review was removed from gene: PROC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PROC | Zornitza Stark reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA |
Zornitza Stark changed review comment from: Founder variant but multiple other families reported. Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection.; to: Founder variant but multiple other families reported. Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection. Risk of false negatives is low. |
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| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark Marked gene: PRKRA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark Gene: prkra has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark Tag for review was removed from gene: PRKRA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PRKRA | Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PGK1 | Zornitza Stark Marked gene: PGK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PGK1 | Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PLG | Zornitza Stark Marked gene: PLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PLG | Zornitza Stark Gene: plg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.135 | PLG | Zornitza Stark Publications for gene: PLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PLG | Zornitza Stark Tag for review was removed from gene: PLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PLG | Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PDHA1 | Zornitza Stark Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.134 | PGK1 | Zornitza Stark Publications for gene: PGK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.133 | PGK1 | Zornitza Stark Tag for review was removed from gene: PGK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.133 | PGK1 | Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.133 | PDHA1 | Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.132 | PDHA1 | Zornitza Stark Publications for gene: PDHA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | PDHA1 | Zornitza Stark Tag for review was removed from gene: PDHA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | PDHA1 | Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | KCNQ1 | Zornitza Stark Tag for review was removed from gene: KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | OCA2 | Zornitza Stark Marked gene: OCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | OCA2 | Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.131 | OCA2 | Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, brown oculocutaneous, 203200 (3) to Albinism, oculocutaneous, type II (MIM#203200) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.130 | OCA2 | Zornitza Stark Classified gene: OCA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.130 | OCA2 | Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.129 | OCA2 | Zornitza Stark Tag for review was removed from gene: OCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.129 | OCA2 | Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.129 | NEB | Zornitza Stark Marked gene: NEB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.129 | NEB | Zornitza Stark Gene: neb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.129 | NEB | Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 (3) to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.128 | NEB | Zornitza Stark Publications for gene: NEB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.127 | MPZ | Zornitza Stark Marked gene: MPZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.127 | MPZ | Zornitza Stark Gene: mpz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.127 | MPZ | Zornitza Stark Publications for gene: MPZ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | MPZ | Zornitza Stark Tag for review was removed from gene: MPZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | NEB | Zornitza Stark Tag for review was removed from gene: NEB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | NEB | Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | LDLR | Zornitza Stark Marked gene: LDLR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | MPZ | Zornitza Stark changed review comment from: More than 3 families reported with biallelic variants.; to: More than 3 families reported with biallelic variants. Childhood/congenital onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | MPZ | Zornitza Stark reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dejerine-Sottas disease, MIM#145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | LDLR | Zornitza Stark Tag for review was removed from gene: LDLR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | LDLR | Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 1 143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | IGHM | Zornitza Stark Marked gene: IGHM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | IGHM | Zornitza Stark Gene: ighm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.126 | IGHM | Zornitza Stark Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1, 601495 (3) to Agammaglobulinaemia 1, 601495 (3) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.125 | IGHM | Zornitza Stark Publications for gene: IGHM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.124 | KCNQ1 | Zornitza Stark Publications for gene: KCNQ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.123 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.123 | IGHM | Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4895 | ADAR | Zornitza Stark Marked gene: ADAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4895 | ADAR | Zornitza Stark Gene: adar has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4895 | ADAR | Zornitza Stark Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4894 | ADAR | Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4893 | ADAR | Zornitza Stark reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4893 | ACTG1 | Zornitza Stark Marked gene: ACTG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4893 | ACTG1 | Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4893 | ACTG1 | Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2, MIM#614583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4892 | ACTG1 | Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4891 | ACTG1 | Zornitza Stark reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 2, MIM#614583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4891 | ACTB | Zornitza Stark Marked gene: ACTB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4891 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4891 | ACTB | Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1, MIM# 243310; ACTB-related neurodevelopment disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4890 | ACTB | Zornitza Stark Publications for gene: ACTB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4889 | ACTB | Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4888 | ACTB | Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29220674; Phenotypes: Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.492 | ACO2 | Zornitza Stark Marked gene: ACO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.492 | ACO2 | Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.492 | ACO2 | Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.491 | ACO2 | Zornitza Stark Publications for gene: ACO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.490 | ACO2 | Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.489 | ACO2 | Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4888 | ACO2 | Zornitza Stark Marked gene: ACO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4888 | ACO2 | Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4888 | ACO2 | Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4887 | ACO2 | Zornitza Stark Publications for gene: ACO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4886 | ACO2 | Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4885 | ACO2 | Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4885 | ABCD1 | Zornitza Stark Marked gene: ABCD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4885 | ABCD1 | Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4885 | ABCD1 | Zornitza Stark Phenotypes for gene: ABCD1 were changed from to Adrenoleukodystrophy, MIM# 300100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4884 | ABCD1 | Zornitza Stark Mode of inheritance for gene: ABCD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4883 | ABCD1 | Zornitza Stark reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4883 | ACADS | Zornitza Stark Marked gene: ACADS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4883 | ACADS | Zornitza Stark Gene: acads has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4883 | ACADS | Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4882 | ACADS | Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4881 | ACADS | Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4881 | ACADM | Zornitza Stark Marked gene: ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4881 | ACADM | Zornitza Stark Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4881 | ACADM | Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4880 | ACADM | Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4879 | ACADM | Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4879 | PAX5 | Zornitza Stark Phenotypes for gene: PAX5 were changed from neurodevelopmental disorder MONDO:0700092 to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4878 | PAX5 | Zornitza Stark Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4877 | PAX5 | Zornitza Stark Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4876 | PAX5 | Zornitza Stark reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.245 | PAX5 | Zornitza Stark Phenotypes for gene: PAX5 were changed from Neurodevelopmental disorder MONDO:0700092, PAX5-related to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.244 | PAX5 | Zornitza Stark Publications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.243 | PAX5 | Zornitza Stark Mode of inheritance for gene: PAX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.242 | PAX5 | Zornitza Stark reviewed gene: PAX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35947077; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PAX5-related, Hypogammaglobulinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | PAX5 | Zornitza Stark Marked gene: PAX5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | PAX5 | Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.119 | PAX5 | Zornitza Stark Phenotypes for gene: PAX5 were changed from Hypogammaglobulinaemia to Neurodevelopmental disorder MONDO:0700092, PAX5-related; Hypogammaglobulinaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.118 | PAX5 | Zornitza Stark Mode of inheritance for gene: PAX5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.117 | PAX5 | Zornitza Stark Classified gene: PAX5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.117 | PAX5 | Zornitza Stark Gene: pax5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.52 | IFT140 | Chirag Patel reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.5 | PRIM1 | Zornitza Stark Marked gene: PRIM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.5 | PRIM1 | Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.5 | PRIM1 | Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.5 | PRIM1 | Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy_Lipoatrophy v1.4 | PRIM1 |
Zornitza Stark gene: PRIM1 was added gene: PRIM1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to 33060134 Phenotypes for gene: PRIM1 were set to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 Review for gene: PRIM1 was set to AMBER Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant. Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD). Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections. Lipodystrophy was part of the phenotype. Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype. Sources: Literature |
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| Fetal anomalies v1.53 | PRIM1 | Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.52 | PRIM1 |
Zornitza Stark Tag deep intronic tag was added to gene: PRIM1. Tag founder tag was added to gene: PRIM1. |
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| Fetal anomalies v1.52 | PRIM1 | Zornitza Stark reviewed gene: PRIM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.22 | PRIM1 | Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.21 | PRIM1 | Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.149 | PRIM1 | Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.148 | PRIM1 | Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.242 | PRIM1 | Zornitza Stark Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.241 | PRIM1 | Zornitza Stark edited their review of gene: PRIM1: Changed phenotypes: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4876 | SMG9 | Zornitza Stark Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM# 616920 to Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4875 | SMG9 | Zornitza Stark Publications for gene: SMG9 were set to 27018474; 31390136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4874 | SMG9 | Zornitza Stark edited their review of gene: SMG9: Added comment: PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.; Changed publications: 27018474, 31390136, 35087184; Changed phenotypes: Heart and brain malformation syndrome, MIM# 616920, Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.241 | SMG9 | Zornitza Stark Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, MIM# 616920 to Heart and brain malformation syndrome, MIM# 616920; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.240 | SMG9 | Zornitza Stark Publications for gene: SMG9 were set to 27018474; 31390136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.239 | SMG9 | Zornitza Stark edited their review of gene: SMG9: Added comment: PMID 35087184: 5 individuals from 3 unrelated Finnish families reported with same homozygous missense variant (founder effect) and predominantly neurological phenotype. Uncertain if this is a distinct disorder or part of a spectrum with the previously reported cases.; Changed publications: 27018474, 31390136, 35087184; Changed phenotypes: Heart and brain malformation syndrome, MIM# 616920, Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v0.116 | PAX5 |
Peter McNaughton gene: PAX5 was added gene: PAX5 was added to Predominantly Antibody Deficiency. Sources: Literature Mode of inheritance for gene: PAX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PAX5 were set to PMID: 35947077 Phenotypes for gene: PAX5 were set to Hypogammaglobulinaemia Review for gene: PAX5 was set to AMBER Added comment: 2.5yo male with recurrent infections and hypogammaglobulinaemia, later also ASD, sensorimotor and cognitive defects. Functional studies showing reduced B cells. Mouse model replicating partial B cell developmental arrest. Sources: Literature |
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| Hereditary Neuropathy - complex v0.132 | MYH14 | Zornitza Stark Marked gene: MYH14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.132 | MYH14 | Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.132 | MYH14 | Zornitza Stark Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.131 | MYH14 | Zornitza Stark Publications for gene: MYH14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.130 | MYH14 | Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.215 | ANXA11 | Zornitza Stark Tag adult onset neurodegenerative tag was added to gene: ANXA11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.130 | MYH14 |
Elena Savva edited their review of gene: MYH14: Added comment: PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss. PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L. - Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described. Single recurring missense appears to be responsible for this phenotype; Changed rating: GREEN; Changed publications: PMID: 21480433, 35274842, 31231018, 27875632 |
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| Incidentalome v0.215 | APC | Zornitza Stark Marked gene: APC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.215 | APC | Zornitza Stark Gene: apc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.215 | APC | Zornitza Stark Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.214 | APC | Zornitza Stark Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.213 | APC | Zornitza Stark Tag cancer tag was added to gene: APC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.213 | APC | Zornitza Stark reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.213 | A2M | Zornitza Stark Marked gene: A2M as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.213 | A2M | Zornitza Stark Gene: a2m has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.213 | A2M | Zornitza Stark Phenotypes for gene: A2M were changed from to Alzheimer disease, MONDO:0004975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.212 | A2M | Zornitza Stark Mode of inheritance for gene: A2M was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.211 | A2M | Zornitza Stark Classified gene: A2M as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.211 | A2M | Zornitza Stark Gene: a2m has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | A2M | Zornitza Stark Tag adult onset neurodegenerative tag was added to gene: A2M. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | A2M | Zornitza Stark reviewed gene: A2M: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease, MONDO:0004975; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | GPD1L | Zornitza Stark edited their review of gene: GPD1L: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | GPD1L | Zornitza Stark Tag cardiac tag was added to gene: GPD1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | ANK2 | Zornitza Stark Tag cardiac tag was added to gene: ANK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | TNNT2 | Zornitza Stark Tag cardiac tag was added to gene: TNNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | KCNE1 | Zornitza Stark Tag cardiac tag was added to gene: KCNE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | CACNA1C | Zornitza Stark Tag review tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | CASQ2 | Zornitza Stark Tag cardiac tag was added to gene: CASQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | CASQ2 | Zornitza Stark Marked gene: CASQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.210 | CASQ2 | Zornitza Stark Phenotypes for gene: CASQ2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.209 | CASQ2 | Zornitza Stark Publications for gene: CASQ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.208 | CASQ2 | Zornitza Stark Mode of inheritance for gene: CASQ2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.207 | CASQ2 | Zornitza Stark reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.206 | SNTA1 | Zornitza Stark Marked gene: SNTA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.206 | SNTA1 | Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.206 | SNTA1 | Zornitza Stark Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12, MIM# 612955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.205 | SNTA1 | Zornitza Stark Publications for gene: SNTA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.204 | SNTA1 | Zornitza Stark Mode of inheritance for gene: SNTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.203 | SNTA1 | Zornitza Stark Classified gene: SNTA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.203 | SNTA1 | Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.202 | SNTA1 |
Zornitza Stark Tag disputed tag was added to gene: SNTA1. Tag cardiac tag was added to gene: SNTA1. |
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| Incidentalome v0.202 | SNTA1 | Zornitza Stark reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12, MIM# 612955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.202 | SCN4B | Zornitza Stark Tag disputed tag was added to gene: SCN4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.202 | SCN4B | Zornitza Stark Marked gene: SCN4B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.202 | SCN4B | Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.202 | SCN4B | Zornitza Stark Phenotypes for gene: SCN4B were changed from to Long QT syndrome 10, MIM# 611819 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.201 | SCN4B | Zornitza Stark Publications for gene: SCN4B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.200 | SCN4B | Zornitza Stark Mode of inheritance for gene: SCN4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.199 | SCN4B | Zornitza Stark Classified gene: SCN4B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.199 | SCN4B | Zornitza Stark Gene: scn4b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.198 | SCN4B | Zornitza Stark Tag cardiac tag was added to gene: SCN4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.198 | KCNE2 | Zornitza Stark Marked gene: KCNE2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.198 | KCNE2 | Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.198 | KCNE2 | Zornitza Stark Phenotypes for gene: KCNE2 were changed from to Long QT syndrome 6, MIM# 613693 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.197 | KCNE2 | Zornitza Stark Publications for gene: KCNE2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.196 | KCNE2 | Zornitza Stark Mode of inheritance for gene: KCNE2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.195 | KCNE2 | Zornitza Stark Classified gene: KCNE2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.195 | KCNE2 | Zornitza Stark Gene: kcne2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.194 | KCNE2 | Zornitza Stark Tag cardiac tag was added to gene: KCNE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.194 | KCNE2 | Zornitza Stark reviewed gene: KCNE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 6, MIM# 613693; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.194 | KCNE1 | Zornitza Stark Marked gene: KCNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.194 | KCNE1 | Zornitza Stark Gene: kcne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.194 | KCNE1 | Zornitza Stark Phenotypes for gene: KCNE1 were changed from to Jervell and Lange-Nielsen syndrome 2, MIM# 612347; Long QT syndrome 5, MIM# 613695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.193 | KCNE1 | Zornitza Stark Mode of inheritance for gene: KCNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.192 | KCNE1 | Zornitza Stark edited their review of gene: KCNE1: Changed rating: GREEN; Changed phenotypes: Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Long QT syndrome 5, MIM# 613695; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.191 | KCNQ1 | Zornitza Stark Tag cardiac tag was added to gene: KCNQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.191 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.191 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.191 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500; Short QT syndrome 2, MIM# 609621; Jervell and Lange-Nielsen syndrome, MIM# 220400; Atrial fibrillation, familial, 3, MIM# 607554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.190 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.189 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500, Short QT syndrome 2, MIM# 609621, Jervell and Lange-Nielsen syndrome, MIM# 220400, Atrial fibrillation, familial, 3, MIM# 607554; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.189 | KCNH2 | Zornitza Stark Tag cardiac tag was added to gene: KCNH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.189 | KCNH2 | Zornitza Stark Marked gene: KCNH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.189 | KCNH2 | Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.189 | KCNH2 | Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688; Short QT syndrome , MIM#1 609620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.188 | KCNH2 | Zornitza Stark Publications for gene: KCNH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.187 | KCNH2 | Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.186 | KCNH2 | Zornitza Stark reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 2, MIM# 613688, Short QT syndrome , MIM#1 609620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.186 | CACNB2 | Zornitza Stark Tag cardiac tag was added to gene: CACNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.186 | CACNB2 | Zornitza Stark Marked gene: CACNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.186 | CACNB2 | Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.186 | CACNB2 | Zornitza Stark Phenotypes for gene: CACNB2 were changed from to Brugada syndrome 4, MIM# 611876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.185 | CACNB2 | Zornitza Stark Publications for gene: CACNB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.184 | CACNB2 | Zornitza Stark Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.183 | CACNB2 | Zornitza Stark Classified gene: CACNB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.183 | CACNB2 | Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.182 | CACNB2 | Zornitza Stark reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29959160; Phenotypes: Brugada syndrome 4, MIM# 611876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.182 | PRKAG2 | Zornitza Stark Tag cardiac tag was added to gene: PRKAG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.182 | PRKAG2 | Zornitza Stark Marked gene: PRKAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.182 | PRKAG2 | Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.182 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.181 | PRKAG2 | Zornitza Stark Publications for gene: PRKAG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.180 | PRKAG2 | Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.179 | PRKAG2 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.179 | PRKAG2 | Zornitza Stark edited their review of gene: PRKAG2: Added comment: Variants associated with cardiomyopathy, conduction disease, and ventricular pre-excitation. More than 50 unrelated individuals reported. Can present with isolated HCM.; Changed publications: 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.179 | MYL3 | Zornitza Stark Tag cardiac tag was added to gene: MYL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.179 | MYL3 | Zornitza Stark Marked gene: MYL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.179 | MYL3 | Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.179 | MYL3 | Zornitza Stark Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.178 | MYL3 | Zornitza Stark Publications for gene: MYL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.177 | MYL3 | Zornitza Stark Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.176 | MYL3 | Zornitza Stark reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.176 | MYL2 | Zornitza Stark Marked gene: MYL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.176 | MYL2 | Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.176 | MYL2 | Zornitza Stark Tag cardiac tag was added to gene: MYL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.176 | MYL2 | Zornitza Stark Phenotypes for gene: MYL2 were changed from to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10, MIM# 608758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.175 | MYL2 | Zornitza Stark Publications for gene: MYL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.174 | MYL2 | Zornitza Stark Mode of inheritance for gene: MYL2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.173 | MYL2 | Zornitza Stark reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 32453731; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424, Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.173 | GLA | Zornitza Stark Publications for gene: GLA were set to 8878432; 31613176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.172 | GLA | Zornitza Stark Tag cardiac tag was added to gene: GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.172 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.172 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.172 | CACNA1C | Zornitza Stark Phenotypes for gene: CACNA1C were changed from to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities; Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.171 | CACNA1C | Zornitza Stark Publications for gene: CACNA1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.170 | CACNA1C | Zornitza Stark Mode of inheritance for gene: CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.169 | CACNA1C |
Zornitza Stark changed review comment from: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. Arrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group Sources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. Arrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group DISPUTED for Brugada. Sources: Expert list |
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| Incidentalome v0.169 | CACNA1C | Zornitza Stark edited their review of gene: CACNA1C: Changed phenotypes: Hypertrophic cardiomyopathy, congenital heart defects, conduction abnormalities, Timothy syndrome, MIM# 601005, Long QT syndrome 8, MIM# 618447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.169 | CACNA1C | Zornitza Stark edited their review of gene: CACNA1C: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.169 | CACNA1C |
Zornitza Stark changed review comment from: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. Sources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. Arrhythmia: definitive evidence for causality in Timothy syndrome but only moderate or limited evidence for isolated LQTS as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group Sources: Expert list |
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| Incidentalome v0.169 | CACNA1C |
Zornitza Stark changed review comment from: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. Sources: Expert list; to: Association with HCM: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. Sources: Expert list |
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| Incidentalome v0.168 | TTN | Zornitza Stark Marked gene: TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.168 | TTN | Zornitza Stark Gene: ttn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.168 | TTN | Zornitza Stark Publications for gene: TTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.167 | TTN | Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TTN | Zornitza Stark Tag cardiac tag was added to gene: TTN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TTN |
Zornitza Stark changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for DCM and myopathy. MODERATE for tibial muscular dystrophy and myofibrillar myopathy. LIMITED for HCM and ARVC. |
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| Incidentalome v0.166 | TTN | Zornitza Stark edited their review of gene: TTN: Changed phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145, Cardiomyopathy, familial hypertrophic, 9, MIM# 613765, Tibial muscular dystrophy, tardive, MIM#600334, Salih myopathy (MIM#611705), Muscular dystrophy, limb-girdle, type 2J, 608807; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TPM1 | Zornitza Stark Marked gene: TPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TPM1 | Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TPM1 | Zornitza Stark Tag cardiac tag was added to gene: TPM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.166 | TPM1 | Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.165 | TPM1 | Zornitza Stark Publications for gene: TPM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.164 | TPM1 | Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.163 | TPM1 |
Zornitza Stark changed review comment from: Several families reported, including ones with extensive segregation evidence; functional data, including animal model. MODERATE by ClinGen.; to: Several families reported, including ones with extensive segregation evidence; functional data, including animal model. MODERATE by ClinGen for DCM. DEFINITIVE for HCM. |
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| Incidentalome v0.163 | TPM1 | Zornitza Stark edited their review of gene: TPM1: Changed phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.163 | TNNT2 | Zornitza Stark Marked gene: TNNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.163 | TNNT2 | Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.163 | TNNT2 | Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Left ventricular noncompaction 6, MIM# 601494 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.162 | TNNT2 | Zornitza Stark Publications for gene: TNNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.161 | TNNT2 | Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.160 | TNNT2 | Zornitza Stark changed review comment from: DEFINITIVE by ClinGen, multiple families, functional data. The p.Lys210del variant is a recurrent pathogenic variant.; to: DEFINITIVE by ClinGen for DCM and HCM, multiple families, functional data. The p.Lys210del variant is a recurrent pathogenic variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.160 | TNNT2 | Zornitza Stark edited their review of gene: TNNT2: Changed publications: 33947203, 11106718, 20978592, 20031601, 15542288, 17556660, 30681346; Changed phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Left ventricular noncompaction 6, MIM# 601494 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.160 | TNNI3 | Zornitza Stark Tag cardiac tag was added to gene: TNNI3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.160 | TNNI3 | Zornitza Stark Marked gene: TNNI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.160 | TNNI3 | Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.160 | TNNI3 | Zornitza Stark Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM#613286; Cardiomyopathy, hypertrophic, 7, MIM# 613690; Cardiomyopathy, familial restrictive, MIM#1115210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.159 | TNNI3 | Zornitza Stark Publications for gene: TNNI3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.158 | TNNI3 | Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.157 | TNNI3 | Zornitza Stark edited their review of gene: TNNI3: Changed publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790, 30681346; Changed phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286, Cardiomyopathy, hypertrophic, 7, MIM# 613690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.157 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.157 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.157 | SCN5A | Zornitza Stark Tag cardiac tag was added to gene: SCN5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.157 | SCN5A | Zornitza Stark Phenotypes for gene: SCN5A were changed from to Long QT syndrome 3 (MIM#603830); Sick sinus syndrome 1, MIM# 608567; Ventricular fibrillation, familial, 1, MIM# 603829; Brugada syndrome 1, MIM# 601144; Heart block, progressive, type IA, MIM# 113900; Cardiomyopathy, dilated, 1E, MIM# 601154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.156 | SCN5A | Zornitza Stark Publications for gene: SCN5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.155 | SCN5A | Zornitza Stark edited their review of gene: SCN5A: Added comment: Variants in this gene are also associated with a range of arrhythmia disorders.; Changed phenotypes: Long QT syndrome 3 (MIM#603830), Sick sinus syndrome 1, MIM# 608567, Ventricular fibrillation, familial, 1, MIM# 603829, Brugada syndrome 1, MIM# 601144, Heart block, progressive, type IA, MIM# 113900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.155 | SCN5A | Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.154 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.154 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.154 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262; Cardiomyopathy, hypertrophic, 1, MIM# 192600; Laing distal myopathy, MIM# 160500; Myopathy, myosin storage, autosomal dominant, MIM# 608358; Myopathy, myosin storage, autosomal recessive, MIM# 255160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.153 | MYH7 | Zornitza Stark Publications for gene: MYH7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.152 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYH7 | Zornitza Stark Tag cardiac tag was added to gene: MYH7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYH7 | Zornitza Stark edited their review of gene: MYH7: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYH7 |
Zornitza Stark changed review comment from: DEFINITIVE by ClinGen, multiple families with segregation evidence and functional data.; to: DEFINITIVE by ClinGen for HCM and DCM, multiple families with segregation evidence and functional data. Also multiple families reported with skeletal myopathies. |
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| Incidentalome v0.151 | MYH7 | Zornitza Stark edited their review of gene: MYH7: Changed publications: 21483645, 30874888, 21846512, 30384889, 25935763, 24558114, 27000522, 31179125, 24119082, 27965028, 33947203, 30681346, 15322983; Changed phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, MONDO:0013262, Cardiomyopathy, hypertrophic, 1, MIM# 192600, Laing distal myopathy, MIM# 160500, Myopathy, myosin storage, autosomal dominant, MIM# 608358, Myopathy, myosin storage, autosomal recessive, MIM# 255160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYBPC3 | Zornitza Stark Marked gene: MYBPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYBPC3 | Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYBPC3 | Zornitza Stark Tag cardiac tag was added to gene: MYBPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.151 | MYBPC3 | Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM#615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.150 | MYBPC3 | Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.149 | MYBPC3 |
Zornitza Stark changed review comment from: Association with HCM is definitive. No segregation or experimental data to support association with DCM. VOUS only in large cohorts.; to: Association with HCM is DEFINITIVE. No segregation or experimental data to support association with DCM. VOUS only in large cohorts. |
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| Incidentalome v0.149 | MYBPC3 | Zornitza Stark edited their review of gene: MYBPC3: Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396, Cardiomyopathy, hypertrophic, 4, MIM# 115197; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.149 | ACTC1 | Zornitza Stark Tag cardiac tag was added to gene: ACTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.149 | ACTC1 | Zornitza Stark Marked gene: ACTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.149 | ACTC1 | Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.149 | ACTC1 | Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Atrial septal defect 5, MIM# 612794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.148 | ACTC1 | Zornitza Stark Publications for gene: ACTC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.147 | ACTC1 | Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.146 | ACTC1 | Zornitza Stark edited their review of gene: ACTC1: Added comment: LIMITED to MODERATE association with congenital heart disease.; Changed publications: 31430208, 30384889, 9563954, 14605248, 20600154, 26432839, 17947298, 31430208; Changed phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Atrial septal defect 5, MIM# 612794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.145 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.145 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.145 | TMEM43 | Zornitza Stark Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Auditory neuropathy, autosomal dominant 3, MIM# 619832; Emery-Dreifuss muscular dystrophy 7 (MIM#614302) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.144 | TMEM43 | Zornitza Stark Publications for gene: TMEM43 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.143 | TMEM43 | Zornitza Stark Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | TMEM43 | Zornitza Stark Tag cardiac tag was added to gene: TMEM43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | TMEM43 | Zornitza Stark changed review comment from: DEFINITIVE by ClinGen, multiple families reported, functional data. Common founder variant p.Ser358Leu.; to: DEFINITIVE by ClinGen for ARVC, multiple families reported, functional data. Common founder variant p.Ser358Leu. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | TMEM43 |
Zornitza Stark edited their review of gene: TMEM43: Added comment: Association with deafness: MODERATE, two multiplex families with missense variants. Association with muscular dystrophy LIMITED to MODERATE: PMID: 21391237 (2011): Different variants reported in 2 adults with EDMD-related myopathy. Ile91Val present in gnomad, 20 hets. Other variant, Glu85Lys, presented in gnomad (1 het) PMID: 30311943 (2019): 1 EDMD family reported with the same Glu85Lys variant. Muscle disease suspected at age of 17 in one family member.; Changed publications: 18313022, 21214875, 23812740, 22725725, 24598986, 29980933, 34050020, 21391237, 30311943; Changed phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400, Auditory neuropathy, autosomal dominant 3, MIM# 619832, Emery-Dreifuss muscular dystrophy 7 (MIM#614302) |
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| Deafness_IsolatedAndComplex v1.143 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.143 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.143 | TMEM43 | Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.143 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.142 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to 34050020 Phenotypes for gene: TMEM43 were set to Auditory neuropathy, autosomal dominant 3, MIM# 619832 Review for gene: TMEM43 was set to AMBER Added comment: 15 individuals reported from two families with missense variants and deafness. Sources: Literature |
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| Hereditary Neuropathy - complex v0.130 | MYH14 | Elena Savva reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21480433, 35274842; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.36 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_Isolated v1.35 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM43 were set to 34050020 Phenotypes for gene: TMEM43 were set to Auditory neuropathy, autosomal dominant 3, MIM# 619832 Review for gene: TMEM43 was set to AMBER Added comment: 15 individuals reported from two families with missense variants and deafness. Sources: Literature |
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| Incidentalome v0.142 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Hypertrophic cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.141 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.140 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | RYR2 | Zornitza Stark Tag cardiac tag was added to gene: RYR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | RYR2 | Zornitza Stark changed review comment from: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).; to: ARVC: gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | RYR2 |
Zornitza Stark edited their review of gene: RYR2: Added comment: DEFINITVE for CPVT. REFUTED for ARVC. LIMITED for HCM.; Changed rating: GREEN; Changed publications: 11159936, 25041964, 29543670, 11208676, 12093772; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772, Arrhythmogenic right ventricular dysplasia 2, MIM# 600996, Hypertrophic cardiomyopathy |
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| Incidentalome v0.139 | PKP2 | Zornitza Stark Tag cardiac tag was added to gene: PKP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | LMNA | Zornitza Stark Tag cardiac tag was added to gene: LMNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | DSP | Zornitza Stark Tag cardiac tag was added to gene: DSP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | DSG2 | Zornitza Stark Tag cardiac tag was added to gene: DSG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | DSC2 | Zornitza Stark Tag cardiac tag was added to gene: DSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | PKP2 | Zornitza Stark Marked gene: PKP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | PKP2 | Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | PKP2 | Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.138 | PKP2 | Zornitza Stark Publications for gene: PKP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.137 | PKP2 | Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.136 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.136 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.136 | LMNA | Zornitza Stark Phenotypes for gene: LMNA were changed from to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy; Lipodystrophy, familial partial, type 2, MIM# 151660; Emery-Dreifuss muscular dystrophy 2, MIM#181350; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.135 | LMNA | Zornitza Stark Publications for gene: LMNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.134 | LMNA | Zornitza Stark Mode of inheritance for gene: LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.133 | LMNA | Zornitza Stark edited their review of gene: LMNA: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.133 | LMNA | Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.132 | LMNA |
Zornitza Stark changed review comment from: Association between LMNA and ARVC has been rated as LIMITED by ClinGen: small number of families reported where only some of the individuals with the variants had convincing ARVC phenotype. Rated Amber on this panel more due to phenotypic overlap with DCM and arrhythmias arising in this context. Sources: Expert list; to: Established association with multiple phenotypes. |
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| Incidentalome v0.132 | LMNA | Zornitza Stark edited their review of gene: LMNA: Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200, Arrhythmogenic right ventricular cardiomyopathy, Lipodystrophy, familial partial, type 2, MIM# 151660, Emery-Dreifuss muscular dystrophy 2, MIM#181350, Mandibuloacral dysplasia 248370, Restrictive dermopathy, lethal 275210, Hutchinson-Gilford progeria 176670, Muscular dystrophy, congenital 613205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.132 | DSP | Zornitza Stark Marked gene: DSP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.132 | DSP | Zornitza Stark Gene: dsp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.132 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.131 | DSP | Zornitza Stark Publications for gene: DSP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.130 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.129 | DSP | Zornitza Stark edited their review of gene: DSP: Added comment: Established gene-disease associations.; Changed phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Epidermolysis bullosa, lethal acantholytic, MIM# 609638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.129 | DSG2 | Zornitza Stark Marked gene: DSG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.129 | DSG2 | Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.129 | DSG2 | Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Cardiomyopathy, dilated, 1BB, MIM# 612877 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.128 | DSG2 | Zornitza Stark Publications for gene: DSG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.127 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.126 | DSG2 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.126 | DSG2 |
Zornitza Stark edited their review of gene: DSG2: Added comment: Assessed as LIMITED by ClinGen for mono-allelic variants and DCM: Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship. Bi-allelic variants and DCM: three families reported, two with missense variants. DEFINITIVE for ARVC.; Changed phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193, Cardiomyopathy, dilated, 1BB, MIM# 612877; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Dilated Cardiomyopathy v1.12 | DSG2 | Zornitza Stark Publications for gene: DSG2 were set to 23071725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.11 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.10 | DSG2 | Zornitza Stark Classified gene: DSG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.10 | DSG2 | Zornitza Stark Gene: dsg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.9 | DSG2 |
Zornitza Stark changed review comment from: Assessed as LIMITED by ClinGen for mono-allelic variants: Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship. Bi-allelic variants: three families reported.; to: Assessed as LIMITED by ClinGen for mono-allelic variants: Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship. Bi-allelic variants: three families reported, two with missense variants. DEFINITIVE for ARVC. |
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| Dilated Cardiomyopathy v1.9 | DSG2 |
Zornitza Stark changed review comment from: Assessed as LIMITED by ClinGen for mono-allelic variants: Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship. Bi-allelic variants: two families reported.; to: Assessed as LIMITED by ClinGen for mono-allelic variants: Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship. Bi-allelic variants: three families reported. |
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| Dilated Cardiomyopathy v1.9 | DSG2 | Zornitza Stark edited their review of gene: DSG2: Changed publications: 33949662, 18678517, 21859740, 28764973, 35941102 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.9 | DSG2 | Zornitza Stark reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33949662, 18678517, 21859740, 28764973; Phenotypes: Cardiomyopathy, dilated, 1BB, MIM# 612877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.126 | DSC2 | Zornitza Stark Marked gene: DSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.126 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.126 | DSC2 | Zornitza Stark Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.125 | DSC2 | Zornitza Stark Publications for gene: DSC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.124 | DSC2 | Zornitza Stark Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4874 | THUMPD1 | Zornitza Stark edited their review of gene: THUMPD1: Changed phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.141 | THUMPD1 | Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.140 | THUMPD1 | Zornitza Stark reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.148 | THUMPD1 | Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.147 | THUMPD1 | Zornitza Stark reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.239 | THUMPD1 | Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.238 | THUMPD1 | Zornitza Stark reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.9 | OTULIN | Zornitza Stark Phenotypes for gene: OTULIN were changed from Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Phagocyte Defects v1.8 | OTULIN | Zornitza Stark edited their review of gene: OTULIN: Changed phenotypes: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.238 | OTULIN | Zornitza Stark Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.237 | OTULIN | Zornitza Stark edited their review of gene: OTULIN: Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099, Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.123 | GYS2 | Zornitza Stark Marked gene: GYS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.123 | GYS2 | Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.123 | GYS2 | Zornitza Stark Publications for gene: GYS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.122 | GYS2 | Zornitza Stark Classified gene: GYS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.122 | GYS2 | Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GYS2 | Zornitza Stark Tag for review was removed from gene: GYS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GYS2 | Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GK | Zornitza Stark edited their review of gene: GK: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GK | Zornitza Stark Marked gene: GK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GK | Zornitza Stark Gene: gk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.121 | GK | Zornitza Stark Publications for gene: GK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.120 | GK | Zornitza Stark Classified gene: GK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.120 | GK | Zornitza Stark Gene: gk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | GK | Zornitza Stark Tag for review was removed from gene: GK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | GK | Zornitza Stark edited their review of gene: GK: Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | GK | Zornitza Stark reviewed gene: GK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency (MIM#307030); Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | PCDH19 |
Crystle Lee gene: PCDH19 was added gene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: PCDH19 was set to Other Publications for gene: PCDH19 were set to 18469813; 30287595 Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088) Review for gene: PCDH19 was set to AMBER Added comment: XLD. Affects heterozygous females, hemizygous males are mainly unaffected > 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype Evidence of mosaicism and incomplete penetrance Sources: Literature |
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| Prepair 1000+ v0.119 | FTCD | Zornitza Stark Marked gene: FTCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | FTCD | Zornitza Stark Gene: ftcd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.119 | FTCD | Zornitza Stark Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency, 229100 (3) to Glutamate formiminotransferase deficiency (MIM#229100) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.118 | FTCD | Zornitza Stark Classified gene: FTCD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.118 | FTCD | Zornitza Stark Gene: ftcd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.117 | FTCD | Zornitza Stark Tag for review was removed from gene: FTCD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.117 | FTCD | Zornitza Stark reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.117 | EFNB1 | Zornitza Stark Marked gene: EFNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.117 | EFNB1 | Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.117 | EFNB1 | Zornitza Stark Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia, 304110 (3) to Craniofrontonasal dysplasia (MIM#304110) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.116 | EFNB1 | Zornitza Stark Tag for review was removed from gene: EFNB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.116 | EFNB1 | Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.116 | CNGA3 | Zornitza Stark Marked gene: CNGA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.116 | CNGA3 | Zornitza Stark Gene: cnga3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.116 | CNGA3 | Zornitza Stark Publications for gene: CNGA3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.115 | CNGA3 | Zornitza Stark Classified gene: CNGA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.115 | CNGA3 | Zornitza Stark Gene: cnga3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.114 | CNGA3 | Zornitza Stark Tag for review was removed from gene: CNGA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.114 | CNGA3 | Zornitza Stark reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.237 | TAF4 | Ee Ming Wong reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846, 28191890, 35904126; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.114 | CHM | Zornitza Stark Marked gene: CHM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.114 | CHM | Zornitza Stark Gene: chm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.114 | CHM | Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia (MIM#303100) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.113 | CHM | Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.112 | CHM | Zornitza Stark Publications for gene: CHM were set to 33110609; 27820636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.112 | CHM | Zornitza Stark Publications for gene: CHM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.111 | CHM | Zornitza Stark Classified gene: CHM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.111 | CHM | Zornitza Stark Gene: chm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.110 | CHM | Zornitza Stark Tag for review was removed from gene: CHM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.110 | CHM | Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.110 | CASQ2 | Zornitza Stark Marked gene: CASQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.110 | CASQ2 | Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.110 | CASQ2 | Zornitza Stark Publications for gene: CASQ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.109 | CASQ2 | Zornitza Stark Tag for review was removed from gene: CASQ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.109 | CASQ2 | Zornitza Stark reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.109 | CARD9 | Zornitza Stark Marked gene: CARD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.109 | CARD9 | Zornitza Stark Gene: card9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.109 | CARD9 | Zornitza Stark Phenotypes for gene: CARD9 were changed from Candidiasis, familial, 2, autosomal recessive, 212050 (3) to Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.108 | CARD9 | Zornitza Stark Publications for gene: CARD9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.107 | CARD9 | Zornitza Stark Classified gene: CARD9 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.107 | CARD9 | Zornitza Stark Gene: card9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | CARD9 | Zornitza Stark Tag for review was removed from gene: CARD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | CARD9 | Zornitza Stark reviewed gene: CARD9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4874 | TAF4 | Ee Ming Wong reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846, 28191890, 35904126; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | C8B | Alison Yeung Marked gene: C8B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | C8B | Alison Yeung Gene: c8b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | C8B | Alison Yeung Classified gene: C8B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | C8B | Alison Yeung Added comment: Comment on list classification: susceptibility to infection - not suitable for reproductive screening panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.106 | C8B | Alison Yeung Gene: c8b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.105 | C8B | Alison Yeung Phenotypes for gene: C8B were changed from C8 deficiency, type II, 613789 (3) to C8 deficiency, type II (MIM#613789) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.104 | C8B | Alison Yeung Publications for gene: C8B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.103 | C7 | Zornitza Stark Marked gene: C7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.103 | C7 | Zornitza Stark Gene: c7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.103 | C7 | Zornitza Stark Publications for gene: C7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.102 | C7 | Zornitza Stark Classified gene: C7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.102 | C7 | Zornitza Stark Gene: c7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.101 | C6 | Zornitza Stark Marked gene: C6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.101 | C6 | Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.101 | C6 | Zornitza Stark Publications for gene: C6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.100 | C6 | Zornitza Stark Classified gene: C6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.100 | C6 | Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | C6 | Zornitza Stark Tag for review was removed from gene: C6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | C6 | Zornitza Stark reviewed gene: C6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | C7 | Zornitza Stark Tag for review was removed from gene: C7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | C7 | Zornitza Stark reviewed gene: C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | BGN | Zornitza Stark Tag for review was removed from gene: BGN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | BGN | Zornitza Stark Marked gene: BGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | BGN | Zornitza Stark Gene: bgn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.99 | BGN | Zornitza Stark Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 (3), X-linked to Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.98 | BGN | Zornitza Stark Publications for gene: BGN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.97 | BGN | Zornitza Stark reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.97 | ATP13A2 | Zornitza Stark Marked gene: ATP13A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.97 | ATP13A2 | Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.97 | ATP13A2 | Zornitza Stark Publications for gene: ATP13A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.96 | ATP13A2 | Zornitza Stark Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, 617225 (3) to Kufor-Rakeb syndrome (MIM#606693) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.95 | ATP13A2 | Zornitza Stark Tag for review was removed from gene: ATP13A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.95 | ATP13A2 | Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.237 | SPTBN5 | Zornitza Stark Phenotypes for gene: SPTBN5 were changed from Sacral agenesis; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related; Sacral agenesis; congenital anomalies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.236 | SPTBN5 | Zornitza Stark Publications for gene: SPTBN5 were set to 32732226; 28007035 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.235 | SPTBN5 | Zornitza Stark Mode of inheritance for gene: SPTBN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.234 | SPTBN5 | Zornitza Stark Classified gene: SPTBN5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.234 | SPTBN5 | Zornitza Stark Gene: sptbn5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.233 | SPTBN5 |
Zornitza Stark changed review comment from: Identified as a candidate gene in a sacral agenesis cohort. PMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Sources: Literature; to: Bi-allelic variants: Identified as a candidate gene in a sacral agenesis cohort. PMID 32732226: compound het variants identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Sources: Literature |
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| Mendeliome v1.233 | SPTBN5 |
Zornitza Stark edited their review of gene: SPTBN5: Added comment: Monoallelic variants: - Four probands from unrelated families (1x Pakistani and 3x Italian) with de novo heterozygous SPTBN5 variants - 3x missense variants and 1x LoF variant were reported - Phenotypes include intellectual disability (mild to severe), aggressive tendencies and variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux; Changed rating: GREEN; Changed publications: 35782384, 32732226, 28007035; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related, Sacral agenesis, congenital anomalies; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Intellectual disability syndromic and non-syndromic v0.4874 | SPTBN5 | Zornitza Stark Marked gene: SPTBN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4874 | SPTBN5 | Zornitza Stark Gene: sptbn5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4874 | SPTBN5 | Zornitza Stark Classified gene: SPTBN5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4874 | SPTBN5 | Zornitza Stark Gene: sptbn5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.122 | THSD4 | Zornitza Stark Tag cardiac tag was added to gene: THSD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.122 | THSD4 | Zornitza Stark Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.122 | TGFBR2 | Zornitza Stark Marked gene: TGFBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.122 | TGFBR2 | Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.122 | TGFBR2 | Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2 , MIM#610168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.121 | TGFBR2 | Zornitza Stark Publications for gene: TGFBR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.120 | TGFBR2 | Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.119 | TGFBR2 | Zornitza Stark Tag cardiac tag was added to gene: TGFBR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.119 | TGFBR2 | Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2 , MIM#610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.119 | TGFBR1 | Zornitza Stark Marked gene: TGFBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.119 | TGFBR1 | Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.119 | TGFBR1 | Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.118 | TGFBR1 | Zornitza Stark Publications for gene: TGFBR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.117 | TGFBR1 | Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.116 | TGFBR1 | Zornitza Stark Tag cardiac tag was added to gene: TGFBR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.116 | TGFBR1 | Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.116 | SMAD3 | Zornitza Stark Publications for gene: SMAD3 were set to 21217753; 30661052 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.115 | SMAD3 | Zornitza Stark Tag cardiac tag was added to gene: SMAD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.115 | MYLK | Zornitza Stark Marked gene: MYLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.115 | MYLK | Zornitza Stark Gene: mylk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.115 | MYLK | Zornitza Stark Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM#613780; Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.114 | MYLK | Zornitza Stark Publications for gene: MYLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.113 | MYLK | Zornitza Stark Mode of inheritance for gene: MYLK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.112 | MYLK | Zornitza Stark Tag cardiac tag was added to gene: MYLK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.112 | MYLK | Zornitza Stark edited their review of gene: MYLK: Changed publications: 28602422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.112 | MYLK |
Zornitza Stark edited their review of gene: MYLK: Added comment: Amber for bi-allelic variants and gastrointestinal neuromuscular disease: PMID: 28602422; - 3 affecteds from 2 consanguineous families. each family is homozygous for 1x fs and 1x splice (abnormal splicing proven). - IHC of 1 affected showed no protein expression in intestine and bladder - For both families, no cardiac problems were reported for the carrier parents.; Changed phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780, Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Incidentalome v0.112 | MYH11 | Zornitza Stark Marked gene: MYH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.112 | MYH11 | Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.112 | MYH11 | Zornitza Stark Tag cardiac tag was added to gene: MYH11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.112 | MYH11 | Zornitza Stark Phenotypes for gene: MYH11 were changed from to Visceral myopathy 2, MIM# 619350; Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351; Aortic aneurysm, familial thoracic 4, MIM# 132900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.111 | MYH11 | Zornitza Stark Publications for gene: MYH11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.110 | MYH11 | Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.109 | MYH11 | Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: 31944481; Phenotypes: Visceral myopathy 2, MIM# 619350, Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351, Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.109 | HCN4 | Zornitza Stark Tag cardiac tag was added to gene: HCN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.109 | HCN4 | Zornitza Stark Marked gene: HCN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.109 | HCN4 | Zornitza Stark Gene: hcn4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.109 | HCN4 | Zornitza Stark Phenotypes for gene: HCN4 were changed from to Sick sinus syndrome 2, MIM# 163800; Aortopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.108 | HCN4 | Zornitza Stark Publications for gene: HCN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.107 | HCN4 | Zornitza Stark Mode of inheritance for gene: HCN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.106 | HCN4 | Zornitza Stark reviewed gene: HCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12750403, 15123648, 16407510, 17646576, 25145518; Phenotypes: Sick sinus syndrome 2, MIM# 163800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.106 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.106 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.106 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Acromicric dysplasia (102370); Ectopia lentis, familial (129600); Geleophysic dysplasia 2 (614185); Marfan lipodystrophy syndrome (616914); Marfan syndrome (154700); MASS syndrome (604308); Stiff skin syndrome (184900); Weill-Marchesani syndrome 2, dominant (608328) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.105 | FBN1 | Zornitza Stark Publications for gene: FBN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.104 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.103 | FBN1 | Zornitza Stark Tag cardiac tag was added to gene: FBN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.103 | COL3A1 | Zornitza Stark Marked gene: COL3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.103 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.103 | COL3A1 | Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050; Polymicrogyria with or without vascular-type EDS, MIM# 618343 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.102 | COL3A1 | Zornitza Stark Publications for gene: COL3A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.101 | COL3A1 | Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.100 | COL3A1 | Zornitza Stark Tag cardiac tag was added to gene: COL3A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.100 | COL3A1 | Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 19455184, 25205403; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050, Polymicrogyria with or without vascular-type EDS, MIM# 618343; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.100 | BGN | Zornitza Stark Tag cardiac tag was added to gene: BGN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.100 | BGN | Zornitza Stark Marked gene: BGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.100 | BGN | Zornitza Stark Gene: bgn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.100 | BGN | Zornitza Stark Phenotypes for gene: BGN were changed from to Meester-Loeys syndrome, MIM# 300989; Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.99 | BGN | Zornitza Stark Publications for gene: BGN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.98 | BGN | Zornitza Stark Mode of inheritance for gene: BGN was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.97 | BGN | Zornitza Stark edited their review of gene: BGN: Changed rating: GREEN; Changed phenotypes: Meester-Loeys syndrome, MIM# 300989, Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.96 | ACTA2 | Zornitza Stark Marked gene: ACTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.96 | ACTA2 | Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.96 | ACTA2 | Zornitza Stark Tag cardiac tag was added to gene: ACTA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.96 | ACTA2 | Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788; Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.95 | ACTA2 | Zornitza Stark Publications for gene: ACTA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.94 | ACTA2 | Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.93 | ACTA2 | Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30724374; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788, Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations SuperPanel v1.13 | Zornitza Stark Panel types changed to Superpanel; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tremors_Superpanel v1.204 | Zornitza Stark Panel types changed to Superpanel; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development_Superpanel v4.31 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal Disorders Superpanel v6.130 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia_Superpanel v1.72 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia Superpanel v2.39 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Myopathy Superpanel v1.119 | Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services; Superpanel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis Pigmentosa Superpanel v0.182 | Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services; Superpanel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy_Superpanel v0.380 | Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services; Australian Genomics; Superpanel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia_Superpanel v0.524 | Zornitza Stark Panel types changed to Royal Melbourne Hospital; Rare Disease; Victorian Clinical Genetics Services; Superpanel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy_CMT_IsolatedAndComplex v1.38 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4873 | SPTBN5 |
Ee Ming Wong gene: SPTBN5 was added gene: SPTBN5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SPTBN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTBN5 were set to 35782384 Phenotypes for gene: SPTBN5 were set to Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related Review for gene: SPTBN5 was set to GREEN gene: SPTBN5 was marked as current diagnostic Added comment: - Four probands from unrelated families (1x Pakistani and 3x Italian) with de novo heterozygous SPTBN5 variants - 3x missense variants and 1x LoF variant were reported - Phenotypes include intellectual disability (mild to severe), aggressive tendencies and variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux Sources: Literature |
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| Progressive Neurological Conditions v7.1361 | Zornitza Stark Panel types changed to Superpanel; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.233 | CPS1 | Zornitza Stark Phenotypes for gene: CPS1 were changed from to Carbamoylphosphate synthetase I deficiency MIM#237300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.232 | CPS1 | Zornitza Stark Mode of inheritance for gene: CPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.231 | CPS1 | Zornitza Stark reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pulmonary hypertension, neonatal, susceptibility to} 615371; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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