Activity
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Arrhythmogenic Cardiomyopathy v0.30 | PKP2 | Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.29 | PKP2 | Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.29 | TGFB3 | Zornitza Stark changed review comment from: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Gene is associated with LDS.; to: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Rated as LIMITED by ClinGen. Gene is associated with LDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.29 | JUP | Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.29 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to 11159936; 25041964 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.28 | RYR2 | Zornitza Stark Tag refuted tag was added to gene: RYR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.28 | RYR2 | Zornitza Stark Classified gene: RYR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.28 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.27 | RYR2 | Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.; to: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.27 | RYR2 | Zornitza Stark edited their review of gene: RYR2: Changed rating: RED; Changed publications: 11159936, 25041964, 29543670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.26 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to 22199124; 25837155; 26620845 Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy Review for gene: LMNA was set to AMBER Added comment: 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 |
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Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Marked gene: DES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.24 | DES |
Zornitza Stark gene: DES was added gene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy Review for gene: DES was set to GREEN Added comment: Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies. Sources: Expert list |
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Arrhythmogenic Cardiomyopathy v0.23 | Zornitza Stark Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Cardiomyopathy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.18 | FANCB | Crystle Lee reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21910217; Phenotypes: Fanconi anemia, complementation group B (MIM#300514); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | RELN | Chern Lim reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: None; Publications: 32001840; Phenotypes: ankylosing spondylitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.22 | RYR2 | Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.22 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.21 | RYR2 | Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC.; to: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.21 | RYR2 | Zornitza Stark edited their review of gene: RYR2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | MORC2 | Dean Phelan reviewed gene: MORC2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32693025; Phenotypes: Spinal muscular atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.55 | CSRP3 | Zornitza Stark Marked gene: CSRP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.55 | CSRP3 | Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.55 | CSRP3 | Zornitza Stark Phenotypes for gene: CSRP3 were changed from to Cardiomyopathy, dilated, 1M MIM#607482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | M1AP |
Ee Ming Wong gene: M1AP was added gene: M1AP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: M1AP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: M1AP were set to PMID: 32673564 Phenotypes for gene: M1AP were set to non-obstructive azoospermia (NOA); severe spermatogenic failure; male infertility Review for gene: M1AP was set to GREEN gene: M1AP was marked as current diagnostic Added comment: - One frameshift variant identified in 9 infertile men either in homozygous or compound heterozygous form - One missense variant segregated with infertility in five men from a consanguineous Turkish family Sources: Literature |
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Dilated Cardiomyopathy v0.54 | CSRP3 | Zornitza Stark Publications for gene: CSRP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.53 | CSRP3 | Zornitza Stark Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.52 | CSRP3 | Zornitza Stark Classified gene: CSRP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.52 | CSRP3 | Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.51 | CSRP3 | Zornitza Stark Tag disputed tag was added to gene: CSRP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.51 | DSC2 | Zornitza Stark Marked gene: DSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.51 | DSC2 | Zornitza Stark Added comment: Comment when marking as ready: No concrete evidence for association with DCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.51 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.51 | DSC2 | Zornitza Stark Classified gene: DSC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.51 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | AHR |
Chern Lim gene: AHR was added gene: AHR was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHR were set to 29726989; 31896775 Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85 MIM#618345; foveal hypoplasia and infantile nystagmus Review for gene: AHR was set to AMBER Added comment: - One reported homozygous splice variant in a consanguineous family & a mouse model (PMID: 29726989) - A homozygous nonsense variant in 1 consanguineous family with foveal hypoplasia and infantile nystagmus (PMID:31896775). Sources: Literature |
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Dilated Cardiomyopathy v0.50 | DOLK | Zornitza Stark Marked gene: DOLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.50 | DOLK | Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.50 | DOLK | Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.50 | DOLK | Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.49 | CRYAB | Zornitza Stark Marked gene: CRYAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.49 | CRYAB | Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.49 | CRYAB | Zornitza Stark Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, MIM#615184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.48 | CRYAB | Zornitza Stark Publications for gene: CRYAB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.47 | CRYAB | Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.46 | CRYAB | Zornitza Stark Classified gene: CRYAB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.46 | CRYAB | Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Marked gene: CDH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Classified gene: CDH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.45 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Marked gene: ACTN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.44 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | AHR | Zornitza Stark Marked gene: AHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | AHR | Zornitza Stark Added comment: Comment when marking as ready: Not sure if the second reported family really has RP phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | AHR | Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | CRY1 | Zornitza Stark Marked gene: CRY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | CRY1 | Zornitza Stark Gene: cry1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | CRY1 | Zornitza Stark Classified gene: CRY1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3657 | CRY1 | Zornitza Stark Gene: cry1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.455 | HPDL |
Crystle Lee gene: HPDL was added gene: HPDL was added to Mitochondrial disease. Sources: Expert Review Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Progressive neurological disorder Review for gene: HPDL was set to GREEN Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia Sources: Expert Review |
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Mendeliome v0.3656 | FBXL7 | Zornitza Stark Marked gene: FBXL7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3656 | FBXL7 | Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3656 | FBXL7 | Zornitza Stark Phenotypes for gene: FBXL7 were changed from Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; proteinālosing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. to Hennekam lymphangiectasia-lymphedema syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2811 | HPDL |
Crystle Lee gene: HPDL was added gene: HPDL was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Progressive neurological disorder Review for gene: HPDL was set to GREEN Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia Sources: Expert Review |
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Mendeliome v0.3655 | FBXL7 | Zornitza Stark Classified gene: FBXL7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3655 | FBXL7 | Zornitza Stark Gene: fbxl7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Regression v0.127 | HPDL |
Crystle Lee gene: HPDL was added gene: HPDL was added to Regression. Sources: Expert Review Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Progressive neurological disorder Review for gene: HPDL was set to GREEN Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia Sources: Expert Review |
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Mendeliome v0.3654 | HPDL | Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | AHR | Chern Lim reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31896775; Phenotypes: foveal hypoplasia and infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3653 | CRY1 |
Ee Ming Wong gene: CRY1 was added gene: CRY1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CRY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRY1 were set to PMID: 28388406; PMID: 32538895 Phenotypes for gene: CRY1 were set to Attention deficit/hyperactivity disorder (ADHD); Delayed sleep phase disorder (DSPD), Penetrance for gene: CRY1 were set to Incomplete Review for gene: CRY1 was set to GREEN gene: CRY1 was marked as current diagnostic Added comment: - Splice variants identified in 7 families with ADHD and DSPD - Gain of function suggested for CRY1Ī11 (PMID: 28388406) - Loss of function suggested for CRY1Ī6 (HEK293T cells transfected with a Per1::Luc reporter plasmid showed reduced repressor activity compared to WT and CRY1Ī11) Sources: Literature |
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Mendeliome v0.3653 | HPDL | Zornitza Stark Marked gene: HPDL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3653 | HPDL | Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2811 | PIGP | Seb Lunke Publications for gene: PIGP were set to 28334793; 31139695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3653 | HPDL | Zornitza Stark Phenotypes for gene: HPDL were changed from Neurological disorder to Progressive neurological disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2810 | PIGP | Seb Lunke Classified gene: PIGP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2810 | PIGP | Seb Lunke Gene: pigp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3652 | HPDL | Zornitza Stark Classified gene: HPDL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3652 | HPDL | Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2809 | PIGP | Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3651 | NCKAP1L | Zornitza Stark Marked gene: NCKAP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3651 | NCKAP1L | Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3651 | PIGP | Seb Lunke Publications for gene: PIGP were set to 31139695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3651 | NCKAP1L | Zornitza Stark Classified gene: NCKAP1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3651 | NCKAP1L | Zornitza Stark Gene: nckap1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3650 | PIGP | Seb Lunke Classified gene: PIGP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3650 | PIGP | Seb Lunke Gene: pigp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3649 | MYLPF | Zornitza Stark Marked gene: MYLPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3649 | MYLPF | Zornitza Stark Added comment: Comment when marking as ready: Two variants each for the bi-allelic and the mono-allelic gene-disease associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3649 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3649 | PIGP | Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3649 | MYLPF | Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3649 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3648 | FBXL7 |
Hazel Phillimore changed review comment from: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. Patient had lymphedema, proteinālosing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. Sources: Literature; to: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. Patient had lymphedema, proteinālosing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. Sources: Literature |
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Arthrogryposis v0.199 | MYLPF | Zornitza Stark Marked gene: MYLPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.199 | MYLPF | Zornitza Stark Added comment: Comment when marking as ready: Two variants each for bi-allelic and mono-allelic gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.199 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.199 | MYLPF | Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.199 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.198 | MYLPF | Zornitza Stark Classified gene: MYLPF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.198 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.769 | SCAF4 |
Crystle Lee gene: SCAF4 was added gene: SCAF4 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities Review for gene: SCAF4 was set to GREEN Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. Sources: Expert Review |
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Intellectual disability syndromic and non-syndromic v0.2809 | SCAF4 | Zornitza Stark Marked gene: SCAF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2809 | SCAF4 | Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2809 | SCAF4 | Zornitza Stark Classified gene: SCAF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2809 | SCAF4 | Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3648 | SCAF4 | Zornitza Stark Marked gene: SCAF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3648 | SCAF4 | Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3648 | SCAF4 | Zornitza Stark Classified gene: SCAF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3648 | SCAF4 | Zornitza Stark Gene: scaf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.133 | PJA1 | Zornitza Stark Marked gene: PJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.133 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.133 | PJA1 | Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.133 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Craniosynostosis v0.132 | PJA1 |
Zornitza Stark gene: PJA1 was added gene: PJA1 was added to Craniosynostosis. Sources: Literature founder tags were added to gene: PJA1. Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly Review for gene: PJA1 was set to AMBER Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. Sources: Literature |
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Mendeliome v0.3647 | FBXL7 |
Hazel Phillimore gene: FBXL7 was added gene: FBXL7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL7 were set to PMID: 31633297 Phenotypes for gene: FBXL7 were set to Hennekam lymphangiectasia-lymphedema syndrome; lymphedema; proteinālosing enteropathy; dental anomalies; camptodactyly; microtia; small auditory canals; ductive hearing loss; middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. Review for gene: FBXL7 was set to AMBER Added comment: Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous. Patient had lymphedema, proteinālosing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae. Sources: Literature |
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Mendeliome v0.3647 | PJA1 | Zornitza Stark Marked gene: PJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3647 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3647 | HPDL |
Crystle Lee gene: HPDL was added gene: HPDL was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Neurological disorder Review for gene: HPDL was set to GREEN Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia Sources: Expert Review |
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Mendeliome v0.3647 | PJA1 | Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3647 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2808 | PJA1 | Zornitza Stark Tag founder tag was added to gene: PJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3646 | PJA1 |
Zornitza Stark gene: PJA1 was added gene: PJA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly Review for gene: PJA1 was set to AMBER Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect Sources: Literature |
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Intellectual disability syndromic and non-syndromic v0.2808 | PJA1 | Zornitza Stark Marked gene: PJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2808 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2808 | PJA1 | Zornitza Stark Classified gene: PJA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2808 | PJA1 | Zornitza Stark Gene: pja1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2807 | PJA1 |
Zornitza Stark gene: PJA1 was added gene: PJA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PJA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PJA1 were set to 32530565 Phenotypes for gene: PJA1 were set to Intellectual disability; trigonocephaly Review for gene: PJA1 was set to AMBER Added comment: Recurrent variant, p.Arg376Cys, reported in 7 Japanese individuals, supportive mouse model. Individuals shared a common haplotype, suggestive of founder effect. Sources: Literature |
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Mendeliome v0.3645 | MYLPF |
Crystle Lee gene: MYLPF was added gene: MYLPF was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to Distal arthrogryoposis Review for gene: MYLPF was set to GREEN Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model. Sources: Expert Review |
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Mendeliome v0.3645 | NCKAP1L |
Michelle Torres gene: NCKAP1L was added gene: NCKAP1L was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCKAP1L were set to 32647003 Phenotypes for gene: NCKAP1L were set to Immunodeficiency Review for gene: NCKAP1L was set to GREEN Added comment: 5 patients from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional of the 4 missense reported were performed. Sources: Literature |
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Genetic Epilepsy v0.769 | PIGP | Seb Lunke Publications for gene: PIGP were set to 28334793; 31139695 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.197 | MYLPF |
Crystle Lee gene: MYLPF was added gene: MYLPF was added to Arthrogryposis. Sources: Expert Review Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to Distal arthrogryoposis Review for gene: MYLPF was set to GREEN Added comment: 2 different homozygous variants reported in 6 consanguineous families with DA and an additional 2 different dominantly inherited variants in 2 families, with supporting animal model. Sources: Expert Review |
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Genetic Epilepsy v0.768 | PIGP | Seb Lunke Classified gene: PIGP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.768 | PIGP | Seb Lunke Gene: pigp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.767 | PIGP | Seb Lunke reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32042915; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3645 | MCF2 | Zornitza Stark Marked gene: MCF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3645 | MCF2 | Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3645 | MCF2 |
Zornitza Stark gene: MCF2 was added gene: MCF2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MCF2 were set to 31846234 Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria Review for gene: MCF2 was set to RED Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model. Sources: Literature |
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Polymicrogyria and Schizencephaly v0.90 | MCF2 | Zornitza Stark Marked gene: MCF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.90 | MCF2 | Zornitza Stark Gene: mcf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.90 | MCF2 |
Zornitza Stark gene: MCF2 was added gene: MCF2 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: MCF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MCF2 were set to 31846234 Phenotypes for gene: MCF2 were set to Perisylvian polymicrogyria Review for gene: MCF2 was set to RED Added comment: Single individual reported, inherited missense variant from unaffected mother, some support from mouse model. Sources: Literature |
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Intellectual disability syndromic and non-syndromic v0.2806 | SCAF4 |
Crystle Lee gene: SCAF4 was added gene: SCAF4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities Review for gene: SCAF4 was set to GREEN Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. Sources: Expert Review |
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Mendeliome v0.3644 | SCAF4 |
Crystle Lee gene: SCAF4 was added gene: SCAF4 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCAF4 were set to 32730804 Phenotypes for gene: SCAF4 were set to Mild intellectual disability; seizures; behavioral abnormalities Review for gene: SCAF4 was set to GREEN Added comment: > 5 variants reported in individuals with variable neurodevelopmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies. Sources: Expert Review |
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Dilated Cardiomyopathy v0.43 | DSC2 |
Paul De Fazio gene: DSC2 was added gene: DSC2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSC2 were set to 21859740 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476 Review for gene: DSC2 was set to AMBER gene: DSC2 was marked as current diagnostic Added comment: ClinGen "Definitive" for ARVC. I can find no specific association with DCM, but this gene is green on the PanelApp GEL DCM panel for phenotypic overlap with DCM. One VUS in DSC2 was identified in a patient who had undergone transplant for DCM (PMID: 21859740) (24 hets in gnomAD). Sources: Literature |
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Dilated Cardiomyopathy v0.43 | DOLK |
Paul De Fazio gene: DOLK was added gene: DOLK was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 31741824; 28816422; 24144945; 22242004 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im MIM#610768 Review for gene: DOLK was set to AMBER gene: DOLK was marked as current diagnostic Added comment: Not curated by ClinGen. This is a CDG gene. Patients may present with DCM (among other phenotypes). PMID 22242004 describes 11 young (5-13) patients with "predominantly nonsyndromic presentation of DCM". Sources: Literature |
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Dilated Cardiomyopathy v0.43 | CSRP3 | Paul De Fazio reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: None; Publications: 12507422, 14567970, 19412328; Phenotypes: ?Cardiomyopathy, dilated, 1M MIM#607482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.43 | CRYAB |
Paul De Fazio changed review comment from: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger). 3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM. PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) PMID 16793013: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN. PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM. PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study) Amber in PanelApp GEL I don't think there's sufficient evidence for an association with DCM so I am marking this red.; to: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger). 3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM. PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) (253 hets in gnomAD) PMID 16483541: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN (18 hets in gnomad). PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM. PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study) Amber in PanelApp GEL I don't think there's sufficient evidence for an association with DCM so I am marking this red. |
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Dilated Cardiomyopathy v0.43 | CRYAB | Paul De Fazio reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16793013, 16483541, 23590293, 29253866; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated Cardiomyopathy v0.43 | CDH2 |
Paul De Fazio changed review comment from: Associated with ARVC. "Limited evidence" for ARVC by ClinGen. Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans. Green in PanelApp GEL but did not achieve consensus green rating. Sources: Literature; to: Associated with ARVC. "Limited evidence" for ARVC by ClinGen. Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of DCM in humans. Green in PanelApp GEL but did not achieve consensus green rating. Sources: Literature |
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Dilated Cardiomyopathy v0.43 | CDH2 |
Paul De Fazio gene: CDH2 was added gene: CDH2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 28280076; 15662031 Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920 Review for gene: CDH2 was set to RED gene: CDH2 was marked as current diagnostic Added comment: Associated with ARVC. "Limited evidence" for ARVC by ClinGen. Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans. Green in PanelApp GEL but did not achieve consensus green rating. Sources: Literature |
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Dilated Cardiomyopathy v0.43 | ACTN2 |
Paul De Fazio gene: ACTN2 was added gene: ACTN2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTN2 were set to 20474083; 25224718; 22253474; 14567970: Phenotypes for gene: ACTN2 were set to Intrinsic cardiomyopathy Review for gene: ACTN2 was set to AMBER gene: ACTN2 was marked as current diagnostic Added comment: Moderate evidence for "intrinsic cardiomyopathy" according to ClinGen. Associated with both HCM and DCM (same MIM# for both). According to ClinGen; 12 unique heterozygous variants have been identified in the context of diverse cardiac phenotypes (HCM, DCM, LVNC, ventricular fibrillation). In DCM: PMID 20474083: 3 "variants of likely clinical significance" and 1 VUS, cohort study PMID 14567970: missense variant in a child who died of DCM PMID 25224718: 2 families with the same missense variant (same haplotype) Rescues a DCM phenotype in Zebrafish (PMID: 22253474). Green on PanelApp GEL but did not achieve consensus Green rating. Amber on PanelApp Aus HCM panel. Sources: Literature |
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Hereditary Neuropathy - complex v0.77 | NARS | Zornitza Stark Marked gene: NARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.77 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.77 | NARS | Zornitza Stark Classified gene: NARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.77 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.76 | NARS |
Zornitza Stark gene: NARS was added gene: NARS was added to Hereditary Neuropathy - complex. Sources: Literature new gene name tags were added to gene: NARS. Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225 Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy Review for gene: NARS was set to GREEN Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). Sources: Literature |
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Mendeliome v0.3644 | NARS | Zornitza Stark Marked gene: NARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3644 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3644 | NARS | Zornitza Stark Classified gene: NARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3644 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3643 | NARS |
Zornitza Stark gene: NARS was added gene: NARS was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225 Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy Review for gene: NARS was set to GREEN Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). Sources: Literature |
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Genetic Epilepsy v0.767 | NARS | Zornitza Stark Marked gene: NARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.767 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.767 | NARS | Zornitza Stark Classified gene: NARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.767 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.766 | NARS | Zornitza Stark Tag new gene name tag was added to gene: NARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2806 | NARS | Zornitza Stark Marked gene: NARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2806 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2806 | NARS | Zornitza Stark Classified gene: NARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2806 | NARS | Zornitza Stark Gene: nars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | NARS | Zornitza Stark Tag new gene name tag was added to gene: NARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | NARS |
Konstantinos Varvagiannis changed review comment from: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy. Sources: Literature; to: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy. Sources: Literature |
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Genetic Epilepsy v0.766 | NARS |
Konstantinos Varvagiannis changed review comment from: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy. Sources: Literature; to: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy. Sources: Literature |
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Genetic Epilepsy v0.766 | NARS |
Konstantinos Varvagiannis gene: NARS was added gene: NARS was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225 Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy Penetrance for gene: NARS were set to Complete Review for gene: NARS was set to GREEN Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy. Sources: Literature |
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Intellectual disability syndromic and non-syndromic v0.2805 | NARS |
Konstantinos Varvagiannis gene: NARS was added gene: NARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225 Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy Penetrance for gene: NARS were set to Complete Review for gene: NARS was set to GREEN Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included of microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model). As also Manole et al suggest, NARS1 can be considered for inclusion in gene panels for DD/ID, epilepsy and/or demyelinating neuropathy. Sources: Literature |
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Mendeliome v0.3642 | ZNF407 | Zornitza Stark Marked gene: ZNF407 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3642 | ZNF407 | Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3642 | ZNF407 | Zornitza Stark Phenotypes for gene: ZNF407 were changed from to Global developmental delay; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3641 | ZNF407 | Zornitza Stark Publications for gene: ZNF407 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3640 | ZNF407 | Zornitza Stark Mode of inheritance for gene: ZNF407 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3639 | ZNF407 | Zornitza Stark Classified gene: ZNF407 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3639 | ZNF407 | Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3638 | ZNF407 | Zornitza Stark reviewed gene: ZNF407: Rating: AMBER; Mode of pathogenicity: None; Publications: 24907849, 32737394, 23195952; Phenotypes: Global developmental delay, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | ZNF407 | Zornitza Stark Marked gene: ZNF407 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | ZNF407 | Zornitza Stark Added comment: Comment when marking as ready: Evidence both for mono allelic and bi-allelic disease, though neither sufficient for Green rating at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | ZNF407 | Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | ZNF407 | Zornitza Stark Classified gene: ZNF407 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2805 | ZNF407 | Zornitza Stark Gene: znf407 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2804 | ZNF407 |
Konstantinos Varvagiannis gene: ZNF407 was added gene: ZNF407 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ZNF407 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ZNF407 were set to 24907849; 32737394; 23195952 Phenotypes for gene: ZNF407 were set to Global developmental delay; Intellectual disability Penetrance for gene: ZNF407 were set to unknown Review for gene: ZNF407 was set to AMBER Added comment: You may consider inclusion of this gene probably with amber rating (or green if the evidence for biallelic variants is considered sufficient). Biallelic variants: - Kambouris et al. (2014 - PMID: 24907849) described 2 brothers with severe DD and ID, born to first cousin parents. Homozygosity mapping, following other non-diagnostic investigations (incl. aCGH), revealed 4 major homozygosity intervals. Exome sequencing in one identified 5 variants within these intervals, ZNF407 (c.5054C>G, p.Ser1685Trp) being the best candidate, supported also by segregation studies. The authors commented that zinc finger proteins act as transcriptional regulators, with mutations in genes encoding for other zinc finger proteins interfering with normal brain development. - Zahra et al. (2020 - PMID: 32737394) report on 7 affected individuals (from 3 families) homozygous or compound heterozygous for ZNF407 variants. Features included hypotonia, DD and ID (in all) and variable occurrence of short stature (6/6), microcephaly (in at least 5), behavioural, visual problems and deafness. Linkage analysis in the first family revealed a 4.4 Mb shared homozygosity region and exome (30x) revealed a 3-bp duplication, confirmed by Sanger sequencing and segregating with the disease (NM_001146189:c.2814_2816dup, p.Val939dup). Affected subjects from the 2 other families were each found to be homozygous (c.2405G>T) or compound heterozygous (c.2884C>G, c.3642G>C) for other variants. Segregation was compatible in all families. Other studies were not performed. The authors comment than only the 3-bp duplication fullfilled ACMG criteria for classification as LP, the other variants being all formally classified as VUS (also due to in silico predictions predicting a LB effect). In addition, while several features such as DD/ID and short stature appeared to be frequent among all patients reported, Zahra et all comment that there was partial clinical overlap with the sibs described by Kambouris et al (additional variants?). Monoallelic disruption of ZNF407: - Ren et al (2013 - PMID: 23195952) described an 8 y.o. boy with ID and ASD. The boy was found to harbor a de novo translocation between chromosomes 3 and 18 [46,XY,t(3;18)(p13;q22.3)]. Array CGH did not reveal any P/LP CNV. Delineation of the breakpoints (FISH, long-range PCR) revealed that the chr18 breakpoint disrupted intron 3 of ZNF407 (isoform 1) with the other breakpoint within a gene-free region of exon 3. There was a loss of 4-8 nt in chr18 and 2-6 in chr3. Sequencing of ZNF407 did not reveal additional variants. RNA isolation in blood followed by RT-PCR studied expression of all 3 ZNF407 isoforms (the intronic region being shared by isoforms 1 and 2). Expression of isoform 1 was shown to be significantly reduced compared to controls. Isoform 2 was undetectable (in blood) while isoform 3 expression was similar to controls. Sequencing of 105 additional patients with similar clinical presentation (ID & ASD) revealed 2 further individuals with de novo missense variants. - Based on the discussion by Kambouris et al (PMID: 24907849 - cited literature not here reviewed) ZNF407 may be deleted in patients with congenital aural atresia due to deletion of a critical region of 18q22.3 (though TSHZ1 is responsible for this phenotype) or 18q- although such deletions span several other genes (cited PMID: 16639285). In one case the breakpoint was shown to be disrupting ZNF407 (cited PMID: 24092497). - The denovo db and Decipher (research variant tab) list few individuals with de novo ZNF407 SNVs although these do not seem to allow conclusions. https://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=ZNF407 https://decipher.sanger.ac.uk/search/ddd-research-variants/results?q=znf407 Sources: Literature |
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Glaucoma congenital v0.46 | OCRL | Zornitza Stark Marked gene: OCRL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.46 | OCRL | Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.46 | OCRL | Zornitza Stark Classified gene: OCRL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.46 | OCRL | Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.45 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Glaucoma congenital. Sources: Expert list 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 syndrome, MIM# 309000 Review for gene: OCRL was set to GREEN Added comment: Glaucoma present in ~50%, GeneReviews. Sources: Expert list |
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Glaucoma congenital v0.44 | IFIH1 | Zornitza Stark Marked gene: IFIH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.44 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.44 | IFIH1 | Zornitza Stark Classified gene: IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.44 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.43 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IFIH1 were set to Singleton-Merten syndrome 1, MIM# 182250 Review for gene: IFIH1 was set to GREEN Added comment: Glaucoma is a feature of this condition. Sources: Expert list |
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Mendeliome v0.3638 | DDX58 | Zornitza Stark Marked gene: DDX58 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3638 | DDX58 | Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3638 | DDX58 | Zornitza Stark Phenotypes for gene: DDX58 were changed from to Singleton-Merten syndrome 2, MIM# 616298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3637 | DDX58 | Zornitza Stark Publications for gene: DDX58 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3636 | DDX58 | Zornitza Stark Mode of inheritance for gene: DDX58 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3635 | DDX58 | Zornitza Stark changed review comment from: Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies.; to: Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. At least 3 families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3635 | DDX58 | Zornitza Stark reviewed gene: DDX58: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620203; Phenotypes: Singleton-Merten syndrome 2, MIM# 616298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.42 | DDX58 | Zornitza Stark Marked gene: DDX58 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.42 | DDX58 | Zornitza Stark Gene: ddx58 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.42 | DDX58 | Zornitza Stark Classified gene: DDX58 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.42 | DDX58 | Zornitza Stark Gene: ddx58 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.41 | DDX58 |
Zornitza Stark gene: DDX58 was added gene: DDX58 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX58 were set to 25620203 Phenotypes for gene: DDX58 were set to Singleton-Merten syndrome 2, MIM# 616298 Review for gene: DDX58 was set to AMBER Added comment: At least two families reported where glaucoma was a feature of the presenting phenotype. Sources: Expert list |
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Glaucoma congenital v0.40 | TEK | Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.39 | TEK | Zornitza Stark Publications for gene: TEK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.38 | TEK | Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.37 | TEK | Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.37 | SH3PXD2B | Zornitza Stark Marked gene: SH3PXD2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.37 | SH3PXD2B | Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.37 | SH3PXD2B | Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.36 | SH3PXD2B | Zornitza Stark Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.35 | SH3PXD2B | Zornitza Stark reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.35 | SBF2 | Zornitza Stark Marked gene: SBF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.35 | SBF2 | Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.35 | SBF2 | Zornitza Stark Phenotypes for gene: SBF2 were changed from to Charcot-Marie-Tooth disease, type 4B2, MIM# 604563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.34 | SBF2 | Zornitza Stark Publications for gene: SBF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.33 | SBF2 | Zornitza Stark Mode of inheritance for gene: SBF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.32 | SBF2 | Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12687498, 15304601; Phenotypes: Charcot-Marie-Tooth disease, type 4B2, MIM# 604563; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.32 | POMGNT1 | Zornitza Stark Marked gene: POMGNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.32 | POMGNT1 | Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.32 | POMGNT1 | Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.32 | POMGNT1 | Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.31 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280 Review for gene: POMGNT1 was set to GREEN Added comment: Glaucoma is part of the ocular phenotype. Sources: Expert list |
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Glaucoma congenital v0.30 | POMT1 | Zornitza Stark Marked gene: POMT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.30 | POMT1 | Zornitza Stark Gene: pomt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.30 | POMT1 | Zornitza Stark Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.29 | POMT1 | Zornitza Stark Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.28 | POMT1 | Zornitza Stark reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.28 | PIK3R1 | Zornitza Stark Marked gene: PIK3R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.28 | PIK3R1 | Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.28 | PIK3R1 | Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.27 | PIK3R1 | Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.26 | PIK3R1 | Zornitza Stark reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.26 | PAX6 | Zornitza Stark Marked gene: PAX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.26 | PAX6 | Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.26 | PAX6 | Zornitza Stark Phenotypes for gene: PAX6 were changed from to Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.25 | PAX6 | Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.24 | PAX6 | Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.24 | MFRP | Zornitza Stark Marked gene: MFRP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.24 | MFRP | Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.24 | MFRP | Zornitza Stark Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.23 | MFRP | Zornitza Stark Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.22 | MFRP | Zornitza Stark Classified gene: MFRP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.22 | MFRP | Zornitza Stark Gene: mfrp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.21 | MFRP | Zornitza Stark reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.21 | FOXE3 | Zornitza Stark Marked gene: FOXE3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.21 | FOXE3 | Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.21 | FOXE3 | Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.21 | FOXE3 | Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.20 | FOXE3 |
Zornitza Stark gene: FOXE3 was added gene: FOXE3 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXE3 were set to 27218149 Phenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 Review for gene: FOXE3 was set to AMBER Added comment: Complex eye phenotype, glaucoma described in at least one family. Sources: Expert list |
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Glaucoma congenital v0.19 | FBN1 | Zornitza Stark Classified gene: FBN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.19 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.18 | FBN1 | Zornitza Stark changed review comment from: Glaucoma is part of the phenotype.; to: Few families reported with WMS phenotype, limited reports of glaucoma. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.18 | FBN1 | Zornitza Stark edited their review of gene: FBN1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.18 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.18 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.18 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Weill-Marchesani syndrome 2, dominant, MIM# 608328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.17 | FBN1 | Zornitza Stark Publications for gene: FBN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.16 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.15 | FBN1 | Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 2, dominant, MIM# 608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.15 | EP300 | Zornitza Stark Marked gene: EP300 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.15 | EP300 | Zornitza Stark Gene: ep300 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.15 | EP300 | Zornitza Stark Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome 2, MIM# 613684 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.14 | EP300 | Zornitza Stark Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.13 | EP300 | Zornitza Stark Classified gene: EP300 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.13 | EP300 | Zornitza Stark Gene: ep300 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.12 | EP300 | Zornitza Stark reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.12 | CREBBP | Zornitza Stark Marked gene: CREBBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.12 | CREBBP | Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.12 | CREBBP | Zornitza Stark Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.11 | CREBBP | Zornitza Stark Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.10 | CREBBP | Zornitza Stark reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.10 | CPAMD8 | Zornitza Stark Marked gene: CPAMD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.10 | CPAMD8 | Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.10 | CPAMD8 | Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.10 | CPAMD8 | Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.9 | CPAMD8 |
Zornitza Stark gene: CPAMD8 was added gene: CPAMD8 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPAMD8 were set to 29556725 Phenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM# 617319 Review for gene: CPAMD8 was set to GREEN Added comment: Anterior segment dysgenesis, glaucoma specifically reported in 8 families. Sources: Expert list |
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Glaucoma congenital v0.8 | COL4A1 | Zornitza Stark Marked gene: COL4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.8 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.8 | COL4A1 | Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.7 | COL4A1 | Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.6 | COL4A1 | Zornitza Stark Classified gene: COL4A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.6 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.5 | COL4A1 | Zornitza Stark reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.5 | ADAMTS17 | Zornitza Stark Marked gene: ADAMTS17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.5 | ADAMTS17 | Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.5 | ADAMTS17 | Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.5 | ADAMTS17 | Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.4 | ADAMTS17 |
Zornitza Stark gene: ADAMTS17 was added gene: ADAMTS17 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195 Review for gene: ADAMTS17 was set to GREEN Added comment: Complex eye phenotype associated with this syndrome, including glaucoma. Sources: Expert list |
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Glaucoma congenital v0.3 | ADAMTS10 | Zornitza Stark Marked gene: ADAMTS10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.3 | ADAMTS10 | Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.3 | ADAMTS10 | Zornitza Stark Classified gene: ADAMTS10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.3 | ADAMTS10 | Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glaucoma congenital v0.2 | ADAMTS10 |
Zornitza Stark gene: ADAMTS10 was added gene: ADAMTS10 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM# 277600 Review for gene: ADAMTS10 was set to GREEN Added comment: Well established gene-disease association with Weill-Marchesani syndrome, a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma (present in ~75%), and, occasionally, heart defects. Sources: Expert list |
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Arrhythmogenic Cardiomyopathy v0.21 | TGFB3 | Zornitza Stark Marked gene: TGFB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.21 | TGFB3 | Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.21 | TGFB3 | Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.20 | TGFB3 | Zornitza Stark Publications for gene: TGFB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.19 | TGFB3 | Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.18 | TGFB3 | Zornitza Stark Classified gene: TGFB3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.18 | TGFB3 | Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.17 | TGFB3 | Zornitza Stark Tag 5'UTR tag was added to gene: TGFB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.17 | TGFB3 | Zornitza Stark reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 15639475; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, MIM# 107970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.17 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.17 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.17 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.16 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.15 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.14 | RYR2 | Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159936, 25041964; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Marked gene: PLN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Tag founder tag was added to gene: PLN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Classified gene: PLN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.13 | PLN |
Zornitza Stark gene: PLN was added gene: PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLN were set to 22820313 Phenotypes for gene: PLN were set to Arrhythmogenic right ventricular cardiomyopathy Review for gene: PLN was set to AMBER Added comment: One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy. Sources: Expert list |
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Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Marked gene: FLNC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Classified gene: FLNC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.11 | FLNC |
Zornitza Stark gene: FLNC was added gene: FLNC was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 31924696 Phenotypes for gene: FLNC were set to Arrhythmogenic right ventricular cardiomyopathy Review for gene: FLNC was set to AMBER Added comment: Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy. Sources: Expert list |
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Arrhythmogenic Cardiomyopathy v0.10 | CHD2 | Zornitza Stark Classified gene: CHD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.10 | CHD2 | Zornitza Stark Gene: chd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arrhythmogenic Cardiomyopathy v0.9 | CHD2 | Zornitza Stark edited their review of gene: CHD2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3635 | IVNS1ABP | Zornitza Stark Marked gene: IVNS1ABP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3635 | IVNS1ABP | Zornitza Stark Gene: ivns1abp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3635 | IVNS1ABP | Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3634 | IVNS1ABP | Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.162 | IVNS1ABP | Zornitza Stark Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.161 | IVNS1ABP | Zornitza Stark reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3634 | IFNG | Zornitza Stark Phenotypes for gene: IFNG were changed from Mendelian susceptibility to mycobacterial disease to Mendelian susceptibility to mycobacterial disease; Immunodeficiency 69, MIM#618963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3633 | IFNG | Zornitza Stark edited their review of gene: IFNG: Changed phenotypes: Mendelian susceptibility to mycobacterial disease, Immunodeficiency 69, MIM#618963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.197 | TOR1A | Zornitza Stark Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.196 | TOR1A | Zornitza Stark reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, MIM#618947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3633 | SYNE2 | Zornitza Stark Tag disputed tag was added to gene: SYNE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.195 | MED12 | Zornitza Stark Marked gene: MED12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.195 | MED12 | Zornitza Stark Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.195 | MED12 | Zornitza Stark Phenotypes for gene: MED12 were changed from to MED12-related disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.194 | MED12 | Zornitza Stark Publications for gene: MED12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.193 | MED12 | Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.192 | TRIP4 | Zornitza Stark Marked gene: TRIP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.192 | TRIP4 | Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.192 | TRIP4 | Zornitza Stark Phenotypes for gene: TRIP4 were changed from to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.191 | TRIP4 | Zornitza Stark Publications for gene: TRIP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Arthrogryposis v0.190 | TRIP4 | Zornitza Stark Mode of inheritance for gene: TRIP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.5 | NOTCH2 | Zornitza Stark Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.5 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.5 | NOTCH2 | Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2, MIM# 610205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.4 | NOTCH2 | Zornitza Stark reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2, MIM# 610205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.4 | JAG1 | Zornitza Stark Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.4 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.4 | JAG1 | Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome, MIM# 1 118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alagille syndrome v0.3 | JAG1 | Zornitza Stark reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.82 | SDHD | Zornitza Stark Marked gene: SDHD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.82 | SDHD | Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.82 | SDHD | Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.81 | SDHD | Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.80 | SDHD | Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.80 | SDHC | Zornitza Stark Marked gene: SDHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.80 | SDHC | Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.80 | SDHC | Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.79 | SDHC | Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.78 | SDHC | Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.78 | SDHB | Zornitza Stark Marked gene: SDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.78 | SDHB | Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.78 | SDHB | Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.77 | SDHB | Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.76 | SDHB | Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.76 | SDHAF2 | Zornitza Stark Marked gene: SDHAF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.76 | SDHAF2 | Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.76 | SDHAF2 | Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.75 | SDHAF2 | Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.74 | SDHAF2 | Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.74 | SDHA | Zornitza Stark Marked gene: SDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.74 | SDHA | Zornitza Stark Gene: sdha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.74 | SDHA | Zornitza Stark Phenotypes for gene: SDHA were changed from to Paragangliomas 5, MIM# 614165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.73 | SDHA | Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.72 | SDHA | Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 5, MIM# 614165; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.72 | RUNX1 | Zornitza Stark Marked gene: RUNX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.72 | RUNX1 | Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.72 | RUNX1 | Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Leukemia, acute myeloid, MIM# 601626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.71 | RUNX1 | Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.70 | RUNX1 | Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.70 | TRIP13 | Zornitza Stark Marked gene: TRIP13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.70 | TRIP13 | Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.70 | TRIP13 | Zornitza Stark Phenotypes for gene: TRIP13 were changed from to Mosaic variegated aneuploidy syndrome 3, MIM# 617598 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.69 | TRIP13 | Zornitza Stark Publications for gene: TRIP13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.68 | TRIP13 | Zornitza Stark Mode of inheritance for gene: TRIP13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.67 | TRIP13 | Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.67 | TRIP13 | Zornitza Stark reviewed gene: TRIP13: Rating: ; Mode of pathogenicity: None; Publications: 28553959; Phenotypes: Mosaic variegated aneuploidy syndrome 3, MIM# 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.67 | TMEM127 | Zornitza Stark Marked gene: TMEM127 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.67 | TMEM127 | Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.67 | TMEM127 | Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.66 | TMEM127 | Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.65 | TMEM127 | Zornitza Stark Classified gene: TMEM127 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.65 | TMEM127 | Zornitza Stark Gene: tmem127 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.64 | TMEM127 | Zornitza Stark reviewed gene: TMEM127: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.64 | RAD51C | Zornitza Stark Classified gene: RAD51C as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.64 | RAD51C | Zornitza Stark Gene: rad51c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.63 | RAD51C | Zornitza Stark changed review comment from: Two families reported, paediatric tumour risk to be established.; to: Two families reported with congenital anomalies only, paediatric tumour risk to be established. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.63 | RAD51C | Zornitza Stark edited their review of gene: RAD51C: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.63 | RAD51C | Zornitza Stark Marked gene: RAD51C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.63 | RAD51C | Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.63 | RAD51C | Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.62 | RAD51C | Zornitza Stark Publications for gene: RAD51C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.61 | RAD51C | Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.60 | RAD51C | Zornitza Stark Classified gene: RAD51C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.60 | RAD51C | Zornitza Stark Gene: rad51c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.59 | RAD51C | Zornitza Stark reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.59 | MUTYH | Zornitza Stark Marked gene: MUTYH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.59 | MUTYH | Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.59 | MUTYH | Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.58 | MUTYH | Zornitza Stark Mode of inheritance for gene: MUTYH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.58 | MUTYH | Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.57 | MUTYH | Zornitza Stark Classified gene: MUTYH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.57 | MUTYH | Zornitza Stark Gene: mutyh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.56 | MUTYH | Zornitza Stark reviewed gene: MUTYH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.56 | MAX | Zornitza Stark edited their review of gene: MAX: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.56 | MAX | Zornitza Stark Marked gene: MAX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.56 | MAX | Zornitza Stark Gene: max has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.56 | MAX | Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.55 | MAX | Zornitza Stark Publications for gene: MAX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.54 | MAX | Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.53 | MAX | Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.53 | HRAS | Zornitza Stark Marked gene: HRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.53 | HRAS | Zornitza Stark Gene: hras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.53 | HRAS | Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome, MIM# 218040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.52 | HRAS | Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.51 | HRAS | Zornitza Stark reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Costello syndrome, MIM# 218040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.51 | GATA2 | Zornitza Stark Marked gene: GATA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.51 | GATA2 | Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.51 | GATA2 | Zornitza Stark Phenotypes for gene: GATA2 were changed from to {Leukemia, acute myeloid, susceptibility to}, MIM# 601626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.50 | GATA2 | Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.49 | GATA2 | Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leukemia, acute myeloid, susceptibility to}, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.49 | FH | Zornitza Stark Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.49 | FH | Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.49 | FH | Zornitza Stark Phenotypes for gene: FH were changed from to Leiomyomatosis and renal cell cancer, MIM# 150800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.48 | FH | Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.47 | FH | Zornitza Stark Classified gene: FH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.47 | FH | Zornitza Stark Gene: fh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.46 | FH | Zornitza Stark reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leiomyomatosis and renal cell cancer, MIM# 150800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.46 | EPCAM | Zornitza Stark Marked gene: EPCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.46 | EPCAM | Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.46 | EPCAM | Zornitza Stark Phenotypes for gene: EPCAM were changed from to Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.45 | EPCAM | Zornitza Stark Mode of inheritance for gene: EPCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.44 | EPCAM | Zornitza Stark Classified gene: EPCAM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.44 | EPCAM | Zornitza Stark Gene: epcam has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.43 | EPCAM | Zornitza Stark reviewed gene: EPCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 8, MIM# 613244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.43 | DIS3L2 | Zornitza Stark Marked gene: DIS3L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.43 | DIS3L2 | Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.43 | DIS3L2 | Zornitza Stark Classified gene: DIS3L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.43 | DIS3L2 | Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.42 | DIS3L2 |
Zornitza Stark gene: DIS3L2 was added gene: DIS3L2 was added to Cancer Predisposition_Paediatric. Sources: Expert list Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000 Review for gene: DIS3L2 was set to GREEN Added comment: Increased risk of Wilms tumour. Sources: Expert list |
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Cancer Predisposition_Paediatric v0.41 | CEBPA | Zornitza Stark Marked gene: CEBPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.41 | CEBPA | Zornitza Stark Gene: cebpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.41 | CEBPA | Zornitza Stark Phenotypes for gene: CEBPA were changed from to Leukemia, acute myeloid, MIM# 601626 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.40 | CEBPA | Zornitza Stark Publications for gene: CEBPA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.39 | CEBPA | Zornitza Stark Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.38 | CEBPA | Zornitza Stark reviewed gene: CEBPA: Rating: ; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.38 | CDKN2A | Zornitza Stark Marked gene: CDKN2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.38 | CDKN2A | Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.38 | CDKN2A | Zornitza Stark Phenotypes for gene: CDKN2A were changed from to Familial Malignant Melanoma and Tumors of the Nervous system; Familial Uveal Melanoma; Pancreatic cancer | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.37 | CDKN2A | Zornitza Stark Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.36 | CDKN2A | Zornitza Stark Classified gene: CDKN2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.36 | CDKN2A | Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.35 | CDKN2A | Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma, Pancreatic cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.35 | CDK4 | Zornitza Stark Marked gene: CDK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.35 | CDK4 | Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.35 | CDK4 | Zornitza Stark Phenotypes for gene: CDK4 were changed from to {Melanoma, cutaneous malignant, 3}, MIM# 609048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.34 | CDK4 | Zornitza Stark Mode of inheritance for gene: CDK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.33 | CDK4 | Zornitza Stark Classified gene: CDK4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.33 | CDK4 | Zornitza Stark Gene: cdk4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.32 | CDK4 | Zornitza Stark reviewed gene: CDK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 3}, MIM# 609048; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.32 | CDH1 | Zornitza Stark Marked gene: CDH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.32 | CDH1 | Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.32 | CDH1 | Zornitza Stark Phenotypes for gene: CDH1 were changed from to Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.31 | CDH1 | Zornitza Stark Mode of inheritance for gene: CDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.30 | CDH1 | Zornitza Stark reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate, MIM# 137215; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.30 | CDC73 | Zornitza Stark Marked gene: CDC73 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.30 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.30 | CDC73 | Zornitza Stark Phenotypes for gene: CDC73 were changed from to Parathyroid carcinoma, MIM# 608266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.29 | CDC73 | Zornitza Stark Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.28 | CDC73 | Zornitza Stark Classified gene: CDC73 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.28 | CDC73 | Zornitza Stark Gene: cdc73 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.27 | CDC73 | Zornitza Stark reviewed gene: CDC73: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parathyroid carcinoma, MIM# 608266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.27 | BUB1B | Zornitza Stark Marked gene: BUB1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.27 | BUB1B | Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.27 | BUB1B | Zornitza Stark Classified gene: BUB1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.27 | BUB1B | Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.26 | BUB1B |
Zornitza Stark gene: BUB1B was added gene: BUB1B was added to Cancer Predisposition_Paediatric. Sources: Expert list Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 31081598; 31053147 Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Review for gene: BUB1B was set to GREEN Added comment: Syndrome with increased tumour risk: Wilms tumor, nephroblastoma, rhabdomyosarcoma, leukaemia. Sources: Expert list |
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Mendeliome v0.3633 | Zornitza Stark removed gene:BAP1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incidentalome v0.33 | BAP1 | Zornitza Stark Marked gene: BAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incidentalome v0.33 | BAP1 | Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incidentalome v0.33 | BAP1 | Zornitza Stark Classified gene: BAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incidentalome v0.33 | BAP1 | Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Incidentalome v0.32 | BAP1 |
Zornitza Stark gene: BAP1 was added gene: BAP1 was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAP1 were set to 21941004; 23684012; 21874000; 21874003 Phenotypes for gene: BAP1 were set to Tumor predisposition syndrome, MIM# 614327 Review for gene: BAP1 was set to GREEN Added comment: Generally adult onset, high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma Sources: Expert list |
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Cancer Predisposition_Paediatric v0.25 | BAP1 | Zornitza Stark Marked gene: BAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.25 | BAP1 | Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.25 | BAP1 | Zornitza Stark Phenotypes for gene: BAP1 were changed from to Tumor predisposition syndrome, MIM# 614327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.24 | BAP1 | Zornitza Stark Publications for gene: BAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.23 | BAP1 | Zornitza Stark Mode of inheritance for gene: BAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.22 | BAP1 | Zornitza Stark Classified gene: BAP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.22 | BAP1 | Zornitza Stark Gene: bap1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.21 | BAP1 | Zornitza Stark reviewed gene: BAP1: Rating: RED; Mode of pathogenicity: None; Publications: 21941004, 23684012, 21874000, 21874003; Phenotypes: Tumor predisposition syndrome, MIM# 614327; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.33 | VKORC1 | Zornitza Stark Marked gene: VKORC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.33 | VKORC1 | Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.33 | VKORC1 | Zornitza Stark Classified gene: VKORC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.33 | VKORC1 | Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.32 | VKORC1 |
Zornitza Stark gene: VKORC1 was added gene: VKORC1 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: VKORC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VKORC1 were set to 21900891; 28198005 Phenotypes for gene: VKORC1 were set to Warfarin resistance, MIM# 122700 Review for gene: VKORC1 was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.31 | CYP2C9 | Zornitza Stark Publications for gene: CYP2C9 were set to 25099164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.30 | CYP2C9 | Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164, 21900891, 28198005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.30 | CYP3A5 | Zornitza Stark Publications for gene: CYP3A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.29 | CYP3A5 | Zornitza Stark edited their review of gene: CYP3A5: Changed publications: 25801146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.29 | CYP2C9 | Zornitza Stark Publications for gene: CYP2C9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.28 | CYP2C9 | Zornitza Stark edited their review of gene: CYP2C9: Changed publications: 25099164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.28 | HLA-B | Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.27 | HLA-B | Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185, 29392710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.27 | TPMT | Zornitza Stark Publications for gene: TPMT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.26 | TPMT | Zornitza Stark edited their review of gene: TPMT: Changed publications: 21270794, 23422873, 30447069 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.26 | NUDT15 | Zornitza Stark Publications for gene: NUDT15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.25 | NUDT15 | Zornitza Stark edited their review of gene: NUDT15: Changed publications: 21270794, 23422873, 30447069 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.25 | HLA-B | Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164, 23695185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.25 | HLA-B | Zornitza Stark Publications for gene: HLA-B were set to 25099164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.24 | HLA-B | Zornitza Stark edited their review of gene: HLA-B: Changed publications: 23695185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.24 | HLA-B | Zornitza Stark Publications for gene: HLA-B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.23 | HLA-B | Zornitza Stark edited their review of gene: HLA-B: Changed publications: 25099164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Classified gene: CACNA1S as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.23 | CACNA1S | Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.22 | CACNA1S |
Zornitza Stark gene: CACNA1S was added gene: CACNA1S was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1S were set to 30499100 Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, MIM# 601887 Review for gene: CACNA1S was set to GREEN Added comment: Two variants, c.520C>T; p.(Arg174Trp) and 3257G>A; p.(Arg1086His) have high level of evidence. Sources: Expert list |
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Pharmacogenomics_Paediatric v0.21 | RYR1 | Zornitza Stark Publications for gene: RYR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.20 | RYR1 | Zornitza Stark edited their review of gene: RYR1: Changed publications: 30499100; Changed phenotypes: {Malignant hyperthermia susceptibility 1} 145600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.20 | NUDT15 | Zornitza Stark Phenotypes for gene: NUDT15 were changed from {Thiopurines, poor metabolism of, 2} 616903; Azathioprine to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine; Mercaptopurine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.19 | NUDT15 | Zornitza Stark edited their review of gene: NUDT15: Changed phenotypes: {Thiopurines, poor metabolism of, 2} 616903, Azathioprine, Mercaptopurine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.19 | CYP2C9 | Zornitza Stark edited their review of gene: CYP2C9: Added comment: Activity levels of CYP2C9 are at 1-2% of adult values in the fetus during the first trimester. These levels gradually increase to 30% of adult values at term. There is a high variability in these levels during the first 5 months of life, with levels eventually approaching adult values somewhere between 5 months and 2 years of age.; Changed phenotypes: Warfarin sensitivity, MIM# 122700, Phenytoin | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.19 | TPMT | Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.18 | TPMT | Zornitza Stark edited their review of gene: TPMT: Changed phenotypes: {Thiopurines, poor metabolism of, 1}, MIM# 610460, Azathioprine, Mercaptopurine | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.33 | MAPK1 | Zornitza Stark Marked gene: MAPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.33 | MAPK1 | Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.33 | MAPK1 | Zornitza Stark Classified gene: MAPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.33 | MAPK1 | Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rasopathy v0.32 | MAPK1 |
Zornitza Stark gene: MAPK1 was added gene: MAPK1 was added to Rasopathy. Sources: Literature Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin Review for gene: MAPK1 was set to GREEN Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants. The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). Sources: Literature |
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Mendeliome v0.3632 | MAPK1 | Zornitza Stark Marked gene: MAPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3632 | MAPK1 | Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3632 | MAPK1 | Zornitza Stark Classified gene: MAPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3632 | MAPK1 | Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3631 | MAPK1 |
Zornitza Stark gene: MAPK1 was added gene: MAPK1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin Review for gene: MAPK1 was set to GREEN Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants. The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). Sources: Literature |
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Intellectual disability syndromic and non-syndromic v0.2804 | MAPK1 | Zornitza Stark Marked gene: MAPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2804 | MAPK1 | Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2804 | MAPK1 | Zornitza Stark Classified gene: MAPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2804 | MAPK1 | Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2803 | MAPK1 |
Konstantinos Varvagiannis gene: MAPK1 was added gene: MAPK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK1 were set to 32721402 Phenotypes for gene: MAPK1 were set to Global developmental delay; Intellectual disability; Behavioral abnormality; Growth delay; Abnormality of the face; Abnormality of the neck; Abnormality of the cardiovascular system; Abnormality of the skin Penetrance for gene: MAPK1 were set to unknown Mode of pathogenicity for gene: MAPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MAPK1 was set to GREEN Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants. The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). The authors comment that screening of 267 additional individuals with suspected RASopathy (without mutations in previously implicated genes) did not reveal other MAPK1 variants. Overall this gene can be considered for inclusion in the ID panel with green rating. Sources: Literature |
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Pharmacogenomics_Paediatric v0.18 | MT-RNR1 | Zornitza Stark Marked gene: MT-RNR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.18 | MT-RNR1 | Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.18 | MT-RNR1 | Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.18 | MT-RNR1 | Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.18 | MT-RNR1 | Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.17 | MT-RNR1 |
Zornitza Stark gene: MT-RNR1 was added gene: MT-RNR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Gentamicin toxicity Review for gene: MT-RNR1 was set to GREEN Added comment: m.1555A>GĀ and m.1494C>T Sources: Expert list |
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Pharmacogenomics_Paediatric v0.16 | NUDT15 | Zornitza Stark Marked gene: NUDT15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.16 | NUDT15 | Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.16 | NUDT15 | Zornitza Stark Classified gene: NUDT15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.16 | NUDT15 | Zornitza Stark Gene: nudt15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.15 | NUDT15 |
Zornitza Stark gene: NUDT15 was added gene: NUDT15 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: NUDT15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NUDT15 were set to {Thiopurines, poor metabolism of, 2} 616903; Azathioprine Review for gene: NUDT15 was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.14 | HLA-B | Zornitza Stark Marked gene: HLA-B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.14 | HLA-B | Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.14 | HLA-B | Zornitza Stark Classified gene: HLA-B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.14 | HLA-B | Zornitza Stark Gene: hla-b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.13 | HLA-B |
Zornitza Stark gene: HLA-B was added gene: HLA-B was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: HLA-B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HLA-B were set to Carbamazepine; Oxcarbamazepine; Phenytoin Review for gene: HLA-B was set to GREEN Added comment: HLA-B*1502 Sources: Expert list |
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Pharmacogenomics_Paediatric v0.12 | HLA-A | Zornitza Stark Marked gene: HLA-A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.12 | HLA-A | Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.12 | HLA-A | Zornitza Stark Classified gene: HLA-A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.12 | HLA-A | Zornitza Stark Gene: hla-a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.11 | HLA-A |
Zornitza Stark gene: HLA-A was added gene: HLA-A was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: HLA-A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HLA-A were set to Carbamazepine Review for gene: HLA-A was set to GREEN Added comment: HLA-A*3101 Sources: Expert list |
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Pharmacogenomics_Paediatric v0.10 | CYP3A5 | Zornitza Stark Marked gene: CYP3A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.10 | CYP3A5 | Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.10 | CYP3A5 | Zornitza Stark Classified gene: CYP3A5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.10 | CYP3A5 | Zornitza Stark Gene: cyp3a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.9 | CYP3A5 |
Zornitza Stark gene: CYP3A5 was added gene: CYP3A5 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYP3A5 were set to Tacrolimus Review for gene: CYP3A5 was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.8 | CYP2C9 | Zornitza Stark Marked gene: CYP2C9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.8 | CYP2C9 | Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.8 | CYP2C9 | Zornitza Stark Classified gene: CYP2C9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.8 | CYP2C9 | Zornitza Stark Gene: cyp2c9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.7 | CYP2C9 |
Zornitza Stark gene: CYP2C9 was added gene: CYP2C9 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYP2C9 were set to Warfarin sensitivity, MIM# 122700; Phenytoin Review for gene: CYP2C9 was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.6 | TPMT | Zornitza Stark Marked gene: TPMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.6 | TPMT | Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.6 | TPMT | Zornitza Stark Classified gene: TPMT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.6 | TPMT | Zornitza Stark Gene: tpmt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.5 | TPMT |
Zornitza Stark gene: TPMT was added gene: TPMT was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine Review for gene: TPMT was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.4 | G6PD | Zornitza Stark Marked gene: G6PD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.4 | G6PD | Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.4 | G6PD | Zornitza Stark Classified gene: G6PD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.4 | G6PD | Zornitza Stark Gene: g6pd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.3 | G6PD |
Zornitza Stark gene: G6PD was added gene: G6PD was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: G6PD were set to Haemolytic anemia, G6PD deficient (favism), MIM# 300908 Review for gene: G6PD was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.2 | RYR1 | Zornitza Stark Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.2 | RYR1 | Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.2 | RYR1 | Zornitza Stark Classified gene: RYR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.2 | RYR1 | Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pharmacogenomics_Paediatric v0.1 | RYR1 |
Zornitza Stark gene: RYR1 was added gene: RYR1 was added to Pharmacogenomics_Paediatric. Sources: Expert list Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1} 145600 Review for gene: RYR1 was set to GREEN Added comment: Sources: Expert list |
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Pharmacogenomics_Paediatric v0.0 |
Zornitza Stark Added Panel Pharmacogenomics_Paediatric Set panel types to: Australian Genomics |
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Callosome v0.175 | ASPM | Zornitza Stark Marked gene: ASPM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Callosome v0.175 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Callosome v0.175 | ASPM | Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Callosome v0.174 | ASPM | Zornitza Stark Publications for gene: ASPM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Callosome v0.173 | ASPM | Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Callosome v0.172 | ASPM | Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2803 | ASPM | Zornitza Stark Marked gene: ASPM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2803 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2803 | ASPM | Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2802 | ASPM | Zornitza Stark Publications for gene: ASPM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2801 | ASPM | Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2800 | ASPM | Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephaly v0.143 | ASPM | Zornitza Stark Marked gene: ASPM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephaly v0.143 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephaly v0.143 | ASPM | Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephaly v0.142 | ASPM | Zornitza Stark Publications for gene: ASPM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephaly v0.141 | ASPM | Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Microcephaly v0.140 | ASPM | Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3630 | ASPM | Zornitza Stark Marked gene: ASPM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3630 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3630 | ASPM | Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3629 | ASPM | Zornitza Stark Publications for gene: ASPM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3628 | ASPM | Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3627 | ASPM | Elena Savva reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive, 608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3627 | AMBRA1 | Bryony Thompson Marked gene: AMBRA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3627 | AMBRA1 | Bryony Thompson Gene: ambra1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3627 | AMBRA1 | Bryony Thompson Classified gene: AMBRA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3627 | AMBRA1 | Bryony Thompson Gene: ambra1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3626 | AMBRA1 |
Bryony Thompson gene: AMBRA1 was added gene: AMBRA1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMBRA1 were set to 17589504; 32333458 Phenotypes for gene: AMBRA1 were set to Neural tube defects Review for gene: AMBRA1 was set to GREEN Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects. Sources: Literature |
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Mendeliome v0.3625 | ERLEC1 | Bryony Thompson Classified gene: ERLEC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3625 | ERLEC1 | Bryony Thompson Gene: erlec1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3624 | ERLEC1 |
Bryony Thompson gene: ERLEC1 was added gene: ERLEC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ERLEC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERLEC1 were set to 32442352 Phenotypes for gene: ERLEC1 were set to Class III malocclusion Review for gene: ERLEC1 was set to GREEN Added comment: A heterozygous missense variant was found to co-segregate with dentofacial deformity in a multi-generational Chinese pedigree (2 unaffected carriers & 11 affected carriers), and 3 additional missense variants were identified in 3 unrelated cases from a sporadic malocclusion cohort. Additional functional assays were conducted to demonstrate that the proper level of ERLEC1 expression is crucial for proper osteogenic differentiation. All identified missense variants were assessed using luciferase reporter assays, and altered activity. Sources: Literature |
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Pancreatitis v0.28 | TRPV6 |
Bryony Thompson changed review comment from: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model. Sources: Literature; to: Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model. Sources: Literature |
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Pancreatitis v0.28 | TRPV6 | Bryony Thompson Marked gene: TRPV6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.28 | TRPV6 | Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.28 | TRPV6 | Bryony Thompson Classified gene: TRPV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.28 | TRPV6 | Bryony Thompson Gene: trpv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.27 | TRPV6 |
Bryony Thompson gene: TRPV6 was added gene: TRPV6 was added to Pancreatitis. Sources: Literature Mode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV6 were set to 32383311; 31930989 Phenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility Review for gene: TRPV6 was set to GREEN Added comment: Two studies identified a significant over-representation of loss of function mainly missense variants in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model. Sources: Literature |
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Autism v0.104 | RIMS2 | Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3623 | RIMS2 | Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3622 | RIMS2 | Zornitza Stark edited their review of gene: RIMS2: Changed phenotypes: nystagmus, retinal dysfunction, autism, night blindness, Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Stationary Night Blindness v0.4 | RIMS2 | Zornitza Stark Phenotypes for gene: RIMS2 were changed from nystagmus; retinal dysfunction; autism; night blindness to nystagmus; retinal dysfunction; autism; night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Stationary Night Blindness v0.3 | RIMS2 | Zornitza Stark reviewed gene: RIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.19 | WDR1 | Zornitza Stark Marked gene: WDR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.19 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.19 | WDR1 | Zornitza Stark Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.18 | WDR1 | Zornitza Stark Publications for gene: WDR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.17 | WDR1 | Zornitza Stark Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.16 | WDR1 | Zornitza Stark Classified gene: WDR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.16 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Vasculitis v0.15 | WDR1 | Zornitza Stark reviewed gene: WDR1: Rating: RED; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3622 | WDR1 | Zornitza Stark Marked gene: WDR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3622 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3622 | WDR1 | Zornitza Stark Phenotypes for gene: WDR1 were changed from to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3621 | WDR1 | Zornitza Stark Publications for gene: WDR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3620 | WDR1 | Zornitza Stark Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3619 | WDR1 | Zornitza Stark reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate, Autoinflammatory periodic fever, Thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phagocyte Defects v0.39 | WDR1 | Zornitza Stark Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phagocyte Defects v0.38 | WDR1 | Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.87 | WDR1 | Zornitza Stark Marked gene: WDR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.87 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.87 | WDR1 | Zornitza Stark Classified gene: WDR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.87 | WDR1 | Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.86 | WDR1 |
Zornitza Stark gene: WDR1 was added gene: WDR1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR1 were set to 27557945; 29751004; 27994071 Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Review for gene: WDR1 was set to GREEN Added comment: At least 7 families reported. Sources: Expert list |
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Hair disorders v0.34 | HOXC13 | Bryony Thompson Marked gene: HOXC13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.34 | HOXC13 | Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.34 | HOXC13 | Bryony Thompson Classified gene: HOXC13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.34 | HOXC13 | Bryony Thompson Gene: hoxc13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.33 | HOXC13 |
Bryony Thompson gene: HOXC13 was added gene: HOXC13 was added to Hair disorders. Sources: Literature Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXC13 were set to 23063621; 23315978; 29278420 Phenotypes for gene: HOXC13 were set to Ectodermal dysplasia 9, hair/nail type MIM#614931 Review for gene: HOXC13 was set to GREEN Added comment: 4 unrelated families with 4 different homozygous variants with hair abnormalities as a feature of the disease phenotype. Sources: Literature |
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Mendeliome v0.3619 | KREMEN1 | Bryony Thompson Marked gene: KREMEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3619 | KREMEN1 | Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3619 | KREMEN1 | Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3619 | KREMEN1 | Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3618 | KREMEN1 |
Bryony Thompson gene: KREMEN1 was added gene: KREMEN1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KREMEN1 were set to 27049303; 27550540 Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392 Review for gene: KREMEN1 was set to AMBER Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development. Sources: Expert list |
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Hair disorders v0.32 | KREMEN1 | Bryony Thompson Marked gene: KREMEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.32 | KREMEN1 | Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.32 | KREMEN1 | Bryony Thompson Classified gene: KREMEN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.32 | KREMEN1 | Bryony Thompson Gene: kremen1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.31 | KREMEN1 |
Bryony Thompson gene: KREMEN1 was added gene: KREMEN1 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KREMEN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KREMEN1 were set to 27049303; 27550540 Phenotypes for gene: KREMEN1 were set to Ectodermal dysplasia 13, hair/tooth type MIM#617392 Review for gene: KREMEN1 was set to AMBER Added comment: 4 consanguineous Palestinian families segregating the same homozygous missense (Phe209Ser) with disease phenotype which includes hair abnormalities. Possible founder variant. There are also animal model functional assays that suggest the gene is involved in hair development. Sources: Expert list |
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Hair disorders v0.30 | TSPEAR | Bryony Thompson Marked gene: TSPEAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.30 | TSPEAR | Bryony Thompson Gene: tspear has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.30 | TSPEAR | Bryony Thompson Classified gene: TSPEAR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.30 | TSPEAR | Bryony Thompson Gene: tspear has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.29 | TSPEAR |
Bryony Thompson gene: TSPEAR was added gene: TSPEAR was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPEAR were set to 27736875 Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MIM#618180 Review for gene: TSPEAR was set to GREEN Added comment: 2 frameshift and 2 missense variants segregating with disease phenotype, which includes hair abnormalities in 3 families, and supporting functional assays. Sources: Expert list |
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Hair disorders v0.28 | KRT85 | Bryony Thompson Classified gene: KRT85 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.28 | KRT85 | Bryony Thompson Gene: krt85 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.27 | KRT85 |
Bryony Thompson gene: KRT85 was added gene: KRT85 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KRT85 were set to 16525032; 19865094; 31273852 Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type MIM#602032 Review for gene: KRT85 was set to GREEN Added comment: 4 families reported, 3 homozygous with 2 different variants and 1 compound heterozygous with hair abnormalities as a feature of the condition. Sources: Expert list |
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Hair disorders v0.26 | CST6 | Bryony Thompson Marked gene: CST6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.26 | CST6 | Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.26 | CST6 | Bryony Thompson Classified gene: CST6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.26 | CST6 | Bryony Thompson Gene: cst6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.25 | CST6 |
Bryony Thompson gene: CST6 was added gene: CST6 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CST6 were set to 30425301; 12393798 Phenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535 Review for gene: CST6 was set to AMBER Added comment: A single family reported with hypotrichosis and a supporting null mouse model Sources: Expert list |
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Congenital Diarrhoea v0.3 | ANO1 | Zornitza Stark Marked gene: ANO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Diarrhoea v0.3 | ANO1 | Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Diarrhoea v0.3 | ANO1 | Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Diarrhoea v0.3 | ANO1 | Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Diarrhoea v0.2 | ANO1 |
Zornitza Stark gene: ANO1 was added gene: ANO1 was added to Congenital Diarrhoea. Sources: Literature Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO1 were set to 32487539 Phenotypes for gene: ANO1 were set to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features Review for gene: ANO1 was set to AMBER Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. Sources: Literature |
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Mendeliome v0.3617 | ANO1 | Zornitza Stark Phenotypes for gene: ANO1 were changed from Impaired intestinal peristalsis; dysmorphic features to Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3616 | ANO1 | Zornitza Stark Marked gene: ANO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3616 | ANO1 | Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3616 | ANO1 | Zornitza Stark Phenotypes for gene: ANO1 were changed from to Impaired intestinal peristalsis; dysmorphic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3615 | ANO1 | Zornitza Stark Classified gene: ANO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3615 | ANO1 | Zornitza Stark Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2800 | TUBB2A | Zornitza Stark Marked gene: TUBB2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2800 | TUBB2A | Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2800 | TUBB2A | Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2799 | TUBB2A | Zornitza Stark Publications for gene: TUBB2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2798 | TUBB2A | Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2797 | TUBB2A | Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulinopathies v0.9 | TUBB2A | Zornitza Stark Marked gene: TUBB2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulinopathies v0.9 | TUBB2A | Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulinopathies v0.9 | TUBB2A | Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulinopathies v0.8 | TUBB2A | Zornitza Stark Publications for gene: TUBB2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulinopathies v0.7 | TUBB2A | Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Tubulinopathies v0.6 | TUBB2A | Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571897; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3614 | TUBB2A | Zornitza Stark edited their review of gene: TUBB2A: Changed publications: 32571897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3614 | TUBB2A | Zornitza Stark Marked gene: TUBB2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3614 | TUBB2A | Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3614 | TUBB2A | Zornitza Stark Phenotypes for gene: TUBB2A were changed from to Cortical dysplasia, complex, with other brain malformations 5 MIM#615763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3613 | TUBB2A | Zornitza Stark Publications for gene: TUBB2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3612 | TUBB2A | Zornitza Stark Mode of inheritance for gene: TUBB2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3611 | TUBB2A | Zornitza Stark reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3611 | PMP22 | Zornitza Stark Marked gene: PMP22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3611 | PMP22 | Zornitza Stark Gene: pmp22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3611 | PMP22 | Zornitza Stark Phenotypes for gene: PMP22 were changed from to Charcot-Marie-Tooth disease, type 1A, MIM# 118220; Charcot-Marie-Tooth disease, type 1E, MIM# 118300; Dejerine-Sottas disease, MIM# 145900; Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3610 | PMP22 | Zornitza Stark Publications for gene: PMP22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3609 | PMP22 | Zornitza Stark Mode of inheritance for gene: PMP22 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3608 | PMP22 | Zornitza Stark Tag SV/CNV tag was added to gene: PMP22. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3608 | PMP22 | Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Note mechanism is often CNV. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3608 | PMP22 | Zornitza Stark reviewed gene: PMP22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1A, MIM# 118220, Charcot-Marie-Tooth disease, type 1E, MIM# 118300, Dejerine-Sottas disease, MIM# 145900, Neuropathy, recurrent, with pressure palsies 162500, Roussy-Levy syndrome 180800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3608 | OTX2 | Zornitza Stark Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3608 | OTX2 | Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v0.62 | OTX2 | Zornitza Stark Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v0.62 | OTX2 | Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v0.62 | OTX2 | Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v0.61 | OTX2 | Zornitza Stark Publications for gene: OTX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v0.60 | OTX2 | Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Anophthalmia_Microphthalmia_Coloboma v0.59 | OTX2 | Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3608 | OTX2 | Zornitza Stark Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125; Pituitary hormone deficiency, combined, 6, MIM# 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3607 | OTX2 | Zornitza Stark Mode of inheritance for gene: OTX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3606 | OTX2 | Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125, Pituitary hormone deficiency, combined, 6, MIM# 613986, Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.81 | CDAN1 | Zornitza Stark Marked gene: CDAN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.81 | CDAN1 | Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.81 | CDAN1 | Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.80 | CDAN1 | Zornitza Stark Publications for gene: CDAN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.79 | CDAN1 | Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.78 | CDAN1 | Zornitza Stark reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3606 | CDAN1 | Zornitza Stark Marked gene: CDAN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3606 | CDAN1 | Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3606 | CDAN1 | Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3605 | CDAN1 | Zornitza Stark Publications for gene: CDAN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3604 | CDAN1 | Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.151 | NGLY1 | Zornitza Stark Marked gene: NGLY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.151 | NGLY1 | Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.151 | NGLY1 | Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.150 | NGLY1 | Zornitza Stark Publications for gene: NGLY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.149 | NGLY1 | Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.148 | NGLY1 | Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694, 32259258; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3603 | NGLY1 | Zornitza Stark Marked gene: NGLY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3603 | NGLY1 | Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3603 | NGLY1 | Zornitza Stark Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3602 | NGLY1 | Zornitza Stark Publications for gene: NGLY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3601 | NGLY1 | Zornitza Stark Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3600 | NGLY1 | Zornitza Stark reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | IMPG2 | Zornitza Stark Marked gene: IMPG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | IMPG2 | Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.59 | IMPG2 | Zornitza Stark Publications for gene: IMPG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.58 | IMPG2 | Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.57 | IMPG2 | Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.56 | IMPG2 | Zornitza Stark reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56, MIM# MIM#613581; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3600 | IMPG2 | Zornitza Stark Phenotypes for gene: IMPG2 were changed from Retinitis pigmentosa 56, MIM#613581 to Retinitis pigmentosa 56, MIM#613581; Macular dystrophy, vitelliform, 5, MIM# 616152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3599 | IMPG2 | Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3598 | IMPG2 | Zornitza Stark Marked gene: IMPG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3598 | IMPG2 | Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3598 | IMPG2 | Zornitza Stark Phenotypes for gene: IMPG2 were changed from to Retinitis pigmentosa 56, MIM#613581 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3597 | IMPG2 | Zornitza Stark Publications for gene: IMPG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3596 | IMPG2 | Zornitza Stark Mode of inheritance for gene: IMPG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.39 | GNPNAT1 | Zornitza Stark Marked gene: GNPNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.39 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.39 | GNPNAT1 | Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.39 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.38 | GNPNAT1 |
Zornitza Stark gene: GNPNAT1 was added gene: GNPNAT1 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPNAT1 were set to 32591345 Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia Review for gene: GNPNAT1 was set to AMBER Added comment: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1. Sources: Expert list |
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Mendeliome v0.3595 | GNPNAT1 | Zornitza Stark Marked gene: GNPNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3595 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3595 | GNPNAT1 | Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3595 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2797 | EEF1A2 | Zornitza Stark Marked gene: EEF1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2797 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2797 | EEF1A2 | Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2796 | EEF1A2 | Zornitza Stark Publications for gene: EEF1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2795 | EEF1A2 | Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2794 | EEF1A2 | Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2793 | EEF1A2 | Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.766 | EEF1A2 | Zornitza Stark Marked gene: EEF1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.766 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.766 | EEF1A2 | Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.765 | EEF1A2 | Zornitza Stark Publications for gene: EEF1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.764 | EEF1A2 | Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.763 | EEF1A2 | Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.762 | EEF1A2 | Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: Epileptic encephalopathy, early infantile, 33, MIM# 616409, Mental retardation, autosomal dominant 38, MIM# 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3594 | EEF1A2 | Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3593 | EEF1A2 | Zornitza Stark Marked gene: EEF1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3593 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3593 | EEF1A2 | Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Epileptic encephalopathy, early infantile, 33, MIM# 616409; Mental retardation, autosomal dominant 38, MIM# 616393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3592 | EEF1A2 | Zornitza Stark Publications for gene: EEF1A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3591 | EEF1A2 | Zornitza Stark Mode of pathogenicity for gene: EEF1A2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.24 | KDF1 | Bryony Thompson Marked gene: KDF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.24 | KDF1 | Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.24 | KDF1 | Bryony Thompson Classified gene: KDF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.24 | KDF1 | Bryony Thompson Gene: kdf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.23 | KDF1 |
Bryony Thompson gene: KDF1 was added gene: KDF1 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDF1 were set to 27838789; 24075906 Phenotypes for gene: KDF1 were set to Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MIM#617337 Review for gene: KDF1 was set to AMBER Added comment: A single multigenerational Saudi family with an autosomal dominant form of hypohidrotic ectodermal dysplasia, with hair abnormalities and a supporting null mouse model. Sources: Expert list |
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Hair disorders v0.22 | RMRP | Bryony Thompson Marked gene: RMRP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.22 | RMRP | Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.22 | RMRP | Bryony Thompson Classified gene: RMRP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.22 | RMRP | Bryony Thompson Gene: rmrp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.21 | RMRP |
Bryony Thompson gene: RMRP was added gene: RMRP was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMRP were set to 16838329; 11207361 Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia MIM#250250 Review for gene: RMRP was set to GREEN Added comment: Well-established cause of a hair abnormality Sources: Expert list |
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Mendeliome v0.3590 | ANO1 |
Arina Puzriakova changed review comment from: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. Sources: Literature; to: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was not performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. Sources: Literature |
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Mendeliome v0.3590 | ANO1 |
Arina Puzriakova gene: ANO1 was added gene: ANO1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO1 were set to 32487539 Added comment: PMID: 32487539 (2020) - Two affected sibs presenting in early infancy with impaired intestinal peristalsis, intestinal pneumatosis and dysmorphic features. Delayed motor and language development was reported in one sibling, however, the other sibling died at 5 months from cardiac arrest and therefore a psychomotor assessment was performed. Exome sequencing identified a homozygous truncating variant (c.897+3_897+6delAAGT, p.L300Vfs*58) in ANO1 which segregated with disease in the family. Functional data revealed that the variant led to lack of expression of functional TMEM16A in patient cells, which in turn abolished calcium-activated Cl- currents. Also supportive mouse model. Sources: Literature |
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Mendeliome v0.3590 | TUBB2A | Arina Puzriakova commented on gene: TUBB2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | PMP22 | Eleanor Williams reviewed gene: PMP22: Rating: ; Mode of pathogenicity: None; Publications: 32356557; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | OTX2 | Eleanor Williams reviewed gene: OTX2: Rating: ; Mode of pathogenicity: None; Publications: 32277752; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | CDAN1 | Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | NGLY1 | Eleanor Williams reviewed gene: NGLY1: Rating: ; Mode of pathogenicity: None; Publications: 32259258; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | GNPNAT1 | Arina Puzriakova edited their review of gene: GNPNAT1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | IMPG2 | Eleanor Williams reviewed gene: IMPG2: Rating: ; Mode of pathogenicity: None; Publications: 32242237; Phenotypes: Retinitis pigmentosa 56 MIM#613581; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | GNPNAT1 |
Arina Puzriakova changed review comment from: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Sources: Literature; to: PMID: 32591345 (2020) - Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Additional cases required to validate pathogenicity of GNPNAT1. Sources: Literature |
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Mendeliome v0.3590 | GNPNAT1 |
Arina Puzriakova gene: GNPNAT1 was added gene: GNPNAT1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPNAT1 were set to 32591345 Phenotypes for gene: GNPNAT1 were set to Rhizomelic skeletal dysplasia Review for gene: GNPNAT1 was set to RED Added comment: Four affected sibs from a consanguineous Pakistani family with skeletal dysplasia, characterised by severe short stature, rhizomelic shortening of the limbs, and metacarpal and metatarsal length irregularities in the hands and feet. WGS revealed a homozygous missense variant (c.226G>A; p.Glu76Lys) in GNPNAT1, which segregating with the phenotype. Gnpnat1 gene knockdown in primary rat chondrocytes decreased cellular proliferation and expression of chondrocyte differentiation markers, indicating the importance of Gnpnat1 for growth plate chondrocyte proliferation and differentiation. Sources: Literature |
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Mendeliome v0.3590 | EEF1A2 | Eleanor Williams reviewed gene: EEF1A2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32160274; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.119 | VHL | Zornitza Stark Marked gene: VHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.119 | VHL | Zornitza Stark Gene: vhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.119 | VHL | Zornitza Stark Phenotypes for gene: VHL were changed from to von Hippel-Lindau syndrome , MIM#193300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.118 | VHL | Zornitza Stark Mode of inheritance for gene: VHL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | VHL | Zornitza Stark reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Hippel-Lindau syndrome , MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | TSC2 | Zornitza Stark Marked gene: TSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | TSC2 | Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.117 | TSC2 | Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis-2, MIM# 613254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.116 | TSC2 | Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC2 | Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC1 | Zornitza Stark Marked gene: TSC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC1 | Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.115 | TSC1 | Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, MIM# 191100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.114 | TSC1 | Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TSC1 | Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TPM1 | Zornitza Stark Marked gene: TPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TPM1 | Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.113 | TPM1 | Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Left ventricular noncompaction 9, MIM# 611878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.112 | TPM1 | Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TPM1 | Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196, Left ventricular noncompaction 9, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TP53 | Zornitza Stark Marked gene: TP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TP53 | Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.111 | TP53 | Zornitza Stark Phenotypes for gene: TP53 were changed from to Li-Fraumeni syndrome, MIM# 151623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.110 | TP53 | Zornitza Stark Mode of inheritance for gene: TP53 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TP53 | Zornitza Stark reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Fraumeni syndrome, MIM# 151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TNNT2 | Zornitza Stark Marked gene: TNNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TNNT2 | Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.109 | TNNT2 | Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Left ventricular noncompaction 6, MIM# 601494 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.108 | TNNT2 | Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNT2 | Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Left ventricular noncompaction 6, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNI3 | Zornitza Stark Marked gene: TNNI3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNI3 | Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.107 | TNNI3 | Zornitza Stark Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.106 | TNNI3 | Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TNNI3 | Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM# 613286, Cardiomyopathy, familial restrictive, MIM#1 115210, Cardiomyopathy, hypertrophic, 7 , MIM#613690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.105 | TMEM43 | Zornitza Stark Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.104 | TMEM43 | Zornitza Stark Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TMEM43 | Zornitza Stark reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TGFBR2 | Zornitza Stark Marked gene: TGFBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TGFBR2 | Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.103 | TGFBR2 | Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.102 | TGFBR2 | Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR1 | Zornitza Stark Marked gene: TGFBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR1 | Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.101 | TGFBR1 | Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.100 | TGFBR1 | Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | STK11 | Zornitza Stark Marked gene: STK11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | STK11 | Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.99 | STK11 | Zornitza Stark Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, MIM# 175200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.98 | STK11 | Zornitza Stark Mode of inheritance for gene: STK11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | STK11 | Zornitza Stark reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | SMAD4 | Zornitza Stark Marked gene: SMAD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | SMAD4 | Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.97 | SMAD4 | Zornitza Stark Phenotypes for gene: SMAD4 were changed from to vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.96 | SMAD4 | Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD4 | Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD3 | Zornitza Stark Marked gene: SMAD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD3 | Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.95 | SMAD3 | Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.94 | SMAD3 | Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SMAD3 | Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SDHD | Zornitza Stark Marked gene: SDHD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SDHD | Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.93 | SDHD | Zornitza Stark Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.92 | SDHD | Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHD | Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHC | Zornitza Stark Marked gene: SDHC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHC | Zornitza Stark Gene: sdhc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.91 | SDHC | Zornitza Stark Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.90 | SDHC | Zornitza Stark Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHC | Zornitza Stark reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | PKD1L1 | Zornitza Stark Marked gene: PKD1L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | PKD1L1 | Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3590 | PKD1L1 | Zornitza Stark Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3589 | PKD1L1 | Zornitza Stark Publications for gene: PKD1L1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3588 | PKD1L1 | Zornitza Stark Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3587 | PKD1L1 | Zornitza Stark reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492, 31026592; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.109 | PKD1L1 | Zornitza Stark Marked gene: PKD1L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.109 | PKD1L1 | Zornitza Stark Added comment: Comment when marking as ready: Additional family reported, promote to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.109 | PKD1L1 | Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.109 | PKD1L1 | Zornitza Stark Phenotypes for gene: PKD1L1 were changed from Heterotaxy, visceral, 8, autosomal (MIM#617205) to Heterotaxy, visceral, 8, autosomal (MIM#617205); heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.108 | PKD1L1 | Zornitza Stark Publications for gene: PKD1L1 were set to 27616478; 30664273; 20080492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.107 | PKD1L1 | Zornitza Stark Classified gene: PKD1L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.107 | PKD1L1 | Zornitza Stark Gene: pkd1l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHB | Zornitza Stark Marked gene: SDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHB | Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.89 | SDHB | Zornitza Stark Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.88 | SDHB | Zornitza Stark Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHB | Zornitza Stark reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHAF2 | Zornitza Stark Marked gene: SDHAF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHAF2 | Zornitza Stark Gene: sdhaf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.87 | SDHAF2 | Zornitza Stark Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.86 | SDHAF2 | Zornitza Stark Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SDHAF2 | Zornitza Stark reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SCN5A | Zornitza Stark Marked gene: SCN5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SCN5A | Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.85 | SCN5A | Zornitza Stark Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10, MIM# 614022; Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900; Heart block, progressive, type IA, MIM# 113900; Long QT syndrome 3, MIM# 603830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.84 | SCN5A | Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | SCN5A | Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 10, MIM# 614022, Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900, Heart block, progressive, type IA, MIM# 113900, Long QT syndrome 3, MIM# 603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.83 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.82 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR2 | Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 , MIM#600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR1 | Zornitza Stark Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR1 | Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.81 | RYR1 | Zornitza Stark Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1}, MIM#145600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.80 | RYR1 | Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RYR1 | Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1}, MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RET | Zornitza Stark Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RET | Zornitza Stark Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.79 | RET | Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Multiple endocrine neoplasia IIB, MIM# 162300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.78 | RET | Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | RET | Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400, Multiple endocrine neoplasia IIB, MIM# 162300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | PTEN | Zornitza Stark Marked gene: PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | PTEN | Zornitza Stark Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.77 | PTEN | Zornitza Stark Phenotypes for gene: PTEN were changed from to Cowden syndrome 1, MIM# 158350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.76 | PTEN | Zornitza Stark Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PTEN | Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PRKAG2 | Zornitza Stark Marked gene: PRKAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PRKAG2 | Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.75 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.74 | PRKAG2 | Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PRKAG2 | Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PMS2 | Zornitza Stark Marked gene: PMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PMS2 | Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.73 | PMS2 | Zornitza Stark Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.72 | PMS2 | Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PMS2 | Zornitza Stark reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PKP2 | Zornitza Stark Marked gene: PKP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PKP2 | Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.71 | PKP2 | Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.70 | PKP2 | Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PKP2 | Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PCSK9 | Zornitza Stark Marked gene: PCSK9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PCSK9 | Zornitza Stark Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.69 | PCSK9 | Zornitza Stark Phenotypes for gene: PCSK9 were changed from to Hypercholesterolemia, familial, 3, MIM# 603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.68 | PCSK9 | Zornitza Stark Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | PCSK9 | Zornitza Stark reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 3, MIM# 603776; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | OTC | Zornitza Stark Marked gene: OTC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | OTC | Zornitza Stark Gene: otc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.67 | OTC | Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency, MIM# 311250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.66 | OTC | Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | OTC | Zornitza Stark reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | NF2 | Zornitza Stark Marked gene: NF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | NF2 | Zornitza Stark Gene: nf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.65 | NF2 | Zornitza Stark Phenotypes for gene: NF2 were changed from to Neurofibromatosis, type 2, MIM# 101000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.64 | NF2 | Zornitza Stark Mode of inheritance for gene: NF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | NF2 | Zornitza Stark reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 2, MIM# 101000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | MYL3 | Zornitza Stark Marked gene: MYL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | MYL3 | Zornitza Stark Gene: myl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.63 | MYL3 | Zornitza Stark Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.62 | MYL3 | Zornitza Stark Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL2 | Zornitza Stark Marked gene: MYL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL2 | Zornitza Stark Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.61 | MYL2 | Zornitza Stark Phenotypes for gene: MYL2 were changed from to Cardiomyopathy, hypertrophic, 10, MIM# 608758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.60 | MYL2 | Zornitza Stark Mode of inheritance for gene: MYL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYL2 | Zornitza Stark reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 10, MIM# 608758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.59 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.58 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, Cardiomyopathy, hypertrophic, 1, MIM# 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH11 | Zornitza Stark Marked gene: MYH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH11 | Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.57 | MYH11 | Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.56 | MYH11 | Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYH11 | Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYBPC3 | Zornitza Stark Marked gene: MYBPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYBPC3 | Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.55 | MYBPC3 | Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197; Left ventricular noncompaction 10, MIM# 615396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.54 | MYBPC3 | Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MYBPC3 | Zornitza Stark reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM# 615396, Cardiomyopathy, hypertrophic, 4, MIM# 115197, Left ventricular noncompaction 10, MIM# 615396; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MUTYH | Zornitza Stark Marked gene: MUTYH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MUTYH | Zornitza Stark Gene: mutyh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.53 | MUTYH | Zornitza Stark Phenotypes for gene: MUTYH were changed from to Adenomas, multiple colorectal, MIM# 608456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.52 | MUTYH | Zornitza Stark Mode of inheritance for gene: MUTYH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MUTYH | Zornitza Stark reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomas, multiple colorectal, MIM# 608456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MSH6 | Zornitza Stark Marked gene: MSH6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MSH6 | Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.51 | MSH6 | Zornitza Stark Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.50 | MSH6 | Zornitza Stark Mode of inheritance for gene: MSH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH6 | Zornitza Stark reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH2 | Zornitza Stark Marked gene: MSH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH2 | Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.49 | MSH2 | Zornitza Stark Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.48 | MSH2 | Zornitza Stark Mode of inheritance for gene: MSH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MSH2 | Zornitza Stark reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MLH1 | Zornitza Stark Marked gene: MLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MLH1 | Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.47 | MLH1 | Zornitza Stark Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.46 | MLH1 | Zornitza Stark Mode of inheritance for gene: MLH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MLH1 | Zornitza Stark reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MEN1 | Zornitza Stark Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MEN1 | Zornitza Stark Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.45 | MEN1 | Zornitza Stark Phenotypes for gene: MEN1 were changed from to Multiple endocrine neoplasia 1, MIM# 131100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.44 | MEN1 | Zornitza Stark Mode of inheritance for gene: MEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | MEN1 | Zornitza Stark reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia 1, MIM# 131100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.43 | LMNA | Zornitza Stark Phenotypes for gene: LMNA were changed from to Cardiomyopathy, dilated, 1A, MIM# 115200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.42 | LMNA | Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LMNA | Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LDLR | Zornitza Stark Marked gene: LDLR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.41 | LDLR | Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1, MIM# 143890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.40 | LDLR | Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | LDLR | Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 1, MIM# 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | KCNQ1 | Zornitza Stark Marked gene: KCNQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | KCNQ1 | Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.39 | KCNQ1 | Zornitza Stark Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.38 | KCNQ1 | Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNQ1 | Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNH2 | Zornitza Stark Marked gene: KCNH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNH2 | Zornitza Stark Gene: kcnh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.37 | KCNH2 | Zornitza Stark Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.36 | KCNH2 | Zornitza Stark Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | KCNH2 | Zornitza Stark reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | HFE | Zornitza Stark Marked gene: HFE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | HFE | Zornitza Stark Gene: hfe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.35 | HFE | Zornitza Stark Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.34 | HFE | Zornitza Stark Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | HFE | Zornitza Stark reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | GLA | Zornitza Stark Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | GLA | Zornitza Stark Gene: gla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.33 | GLA | Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.32 | GLA | Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | GLA | Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.31 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.30 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | FBN1 | Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | DSP | Zornitza Stark Marked gene: DSP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | DSP | Zornitza Stark Gene: dsp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.29 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.28 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSP | Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSG2 | Zornitza Stark Marked gene: DSG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSG2 | Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.27 | DSG2 | Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.26 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSG2 | Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSC2 | Zornitza Stark Marked gene: DSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.25 | DSC2 | Zornitza Stark Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.24 | DSC2 | Zornitza Stark Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | DSC2 | Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | COL3A1 | Zornitza Stark Marked gene: COL3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | COL3A1 | Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.23 | COL3A1 | Zornitza Stark Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.22 | COL3A1 | Zornitza Stark Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | COL3A1 | Zornitza Stark reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | CACNA1S | Zornitza Stark Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | CACNA1S | Zornitza Stark Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.21 | CACNA1S | Zornitza Stark Phenotypes for gene: CACNA1S were changed from to Malignant hyperthermia susceptibility 5, MIM# 601887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.20 | CACNA1S | Zornitza Stark Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | CACNA1S | Zornitza Stark reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | BRCA2 | Zornitza Stark Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | BRCA2 | Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.19 | BRCA2 | Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.18 | BRCA2 | Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA2 | Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA1 | Zornitza Stark Marked gene: BRCA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA1 | Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.17 | BRCA1 | Zornitza Stark Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.16 | BRCA1 | Zornitza Stark Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BRCA1 | Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BMPR1A | Zornitza Stark Marked gene: BMPR1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BMPR1A | Zornitza Stark Gene: bmpr1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.15 | BMPR1A | Zornitza Stark Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.14 | BMPR1A | Zornitza Stark Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | BMPR1A | Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | ATP7B | Zornitza Stark Marked gene: ATP7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.13 | ATP7B | Zornitza Stark Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.12 | ATP7B | Zornitza Stark Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | ATP7B | Zornitza Stark reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | APOB | Zornitza Stark Marked gene: APOB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | APOB | Zornitza Stark Gene: apob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.11 | APOB | Zornitza Stark Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.10 | APOB | Zornitza Stark Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APOB | Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APC | Zornitza Stark Marked gene: APC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APC | Zornitza Stark Gene: apc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.9 | APC | Zornitza Stark Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.8 | APC | Zornitza Stark Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | ACTC1 | Zornitza Stark Marked gene: ACTC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | ACTC1 | Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.7 | ACTC1 | Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.6 | ACTC1 | Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTC1 | Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Left ventricular noncompaction 4, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTA2 | Zornitza Stark Marked gene: ACTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTA2 | Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.5 | ACTA2 | Zornitza Stark Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.4 | ACTA2 | Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v0.3 | ACTA2 | Zornitza Stark reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.20 | KRT25 | Bryony Thompson Classified gene: KRT25 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.20 | KRT25 | Bryony Thompson Gene: krt25 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.19 | KRT25 |
Bryony Thompson gene: KRT25 was added gene: KRT25 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683 Phenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760 Review for gene: KRT25 was set to GREEN Added comment: 4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models. Sources: Expert list |
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Combined Immunodeficiency v0.161 | TERT | Bryony Thompson reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Dyskeratosis congenita with Variable lymphocyte numbers; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.106 | PKD1L1 | Anna Le Fevre reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31026592 (in addition to those listed below); Phenotypes: heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3587 | IVNS1ABP | Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3587 | IVNS1ABP | Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3586 | IVNS1ABP |
Bryony Thompson gene: IVNS1ABP was added gene: IVNS1ABP was added to Mendeliome. Sources: Literature Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IVNS1ABP were set to 32499645 Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency Review for gene: IVNS1ABP was set to GREEN Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes. Sources: Literature |
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Combined Immunodeficiency v0.161 | IVNS1ABP | Bryony Thompson Marked gene: IVNS1ABP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.161 | IVNS1ABP | Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.161 | IVNS1ABP | Bryony Thompson Classified gene: IVNS1ABP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.161 | IVNS1ABP | Bryony Thompson Gene: ivns1abp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.160 | IVNS1ABP |
Bryony Thompson gene: IVNS1ABP was added gene: IVNS1ABP was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IVNS1ABP were set to 32499645 Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency Review for gene: IVNS1ABP was set to GREEN Added comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes. Sources: Literature |
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Mendeliome v0.3585 | PTPN2 | Bryony Thompson Marked gene: PTPN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3585 | PTPN2 | Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3585 | PTPN2 | Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3585 | PTPN2 | Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3584 | PTPN2 |
Bryony Thompson gene: PTPN2 was added gene: PTPN2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN2 were set to 32499645; 27658548 Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency Review for gene: PTPN2 was set to AMBER Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype. Sources: Literature |
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Autoinflammatory Disorders v0.85 | PTPN2 | Bryony Thompson Marked gene: PTPN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.85 | PTPN2 | Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.85 | PTPN2 | Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.85 | PTPN2 | Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v0.84 | PTPN2 |
Bryony Thompson gene: PTPN2 was added gene: PTPN2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN2 were set to 32499645; 27658548 Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency Review for gene: PTPN2 was set to AMBER Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype. Sources: Literature |
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Mendeliome v0.3583 | SOCS1 | Bryony Thompson Marked gene: SOCS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3583 | SOCS1 | Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3583 | SOCS1 | Bryony Thompson Classified gene: SOCS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3583 | SOCS1 | Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3582 | SOCS1 |
Bryony Thompson gene: SOCS1 was added gene: SOCS1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100 Phenotypes for gene: SOCS1 were set to Common variable immunodeficiency Review for gene: SOCS1 was set to GREEN Added comment: 2 unrelated families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models. Sources: Literature |
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Common Variable Immunodeficiency v0.92 | SOCS1 | Bryony Thompson edited their review of gene: SOCS1: Changed phenotypes: Common variable immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.92 | SOCS1 | Bryony Thompson Phenotypes for gene: SOCS1 were changed from Common variant immunodeficiency to Common variable immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.91 | SOCS1 | Bryony Thompson Marked gene: SOCS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.91 | SOCS1 | Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.91 | SOCS1 | Bryony Thompson Classified gene: SOCS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.91 | SOCS1 | Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.90 | SOCS1 |
Bryony Thompson gene: SOCS1 was added gene: SOCS1 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100 Phenotypes for gene: SOCS1 were set to Common variant immunodeficiency Review for gene: SOCS1 was set to GREEN Added comment: 2 unrealted families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models. Sources: Literature |
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Mitochondrial disease v0.455 | MRPS28 | Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.454 | MRPS28 | Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3581 | MRPS23 | Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 45, MIM#618951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3580 | MRPS23 | Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 45, MIM#618951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.454 | MRPS23 | Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.453 | MRPS23 | Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3580 | MRPL12 | Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3579 | MRPL12 | Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.453 | MRPL12 | Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.452 | MRPL12 | Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3579 | TASP1 | Zornitza Stark Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3578 | TASP1 | Zornitza Stark edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2793 | TASP1 | Zornitza Stark Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities; Suleiman-El-Hattab syndrome, MIM#618950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2792 | TASP1 | Zornitza Stark edited their review of gene: TASP1: Changed phenotypes: Developmental delay, microcephaly, dysmorphic features, congenital abnormalities, Suleiman-El-Hattab syndrome, MIM#618950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Marked gene: LPIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Classified gene: LPIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.51 | LPIN1 | Bryony Thompson Gene: lpin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.23 | ENO3 | Zornitza Stark Marked gene: ENO3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.23 | ENO3 | Zornitza Stark Gene: eno3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.23 | ENO3 | Zornitza Stark Phenotypes for gene: ENO3 were changed from to Glycogen storage disease XIII, MIM#612932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.22 | ENO3 | Zornitza Stark Publications for gene: ENO3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.21 | ENO3 | Zornitza Stark Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.20 | ENO3 | Crystle Lee reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31741825, 11506403, 18070103, 25267339; Phenotypes: Glycogen storage disease XIII MIM#612932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Marked gene: ACADSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Classified gene: ACADSB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.36 | ACADSB | Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.34 | SLC52A3 | Zornitza Stark Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.34 | SLC52A3 | Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.34 | SLC52A3 | Zornitza Stark Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.34 | SLC52A3 | Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.33 | SLC52A3 |
Zornitza Stark gene: SLC52A3 was added gene: SLC52A3 was added to Fatty Acid Oxidation Defects. Sources: Expert list 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 Review for gene: SLC52A3 was set to GREEN Added comment: Definitive by ClinGen. Sources: Expert list |
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Fatty Acid Oxidation Defects v0.32 | SLC52A2 | Zornitza Stark Marked gene: SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.32 | SLC52A2 | Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.32 | SLC52A2 | Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.32 | SLC52A2 | Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.31 | SLC52A2 |
Zornitza Stark gene: SLC52A2 was added gene: SLC52A2 was added to Fatty Acid Oxidation Defects. Sources: Expert list 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 Review for gene: SLC52A2 was set to GREEN Added comment: Definitive by ClinGen. Sources: Expert list |
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Fatty Acid Oxidation Defects v0.30 | SLC22A5 | Zornitza Stark Marked gene: SLC22A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.30 | SLC22A5 | Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.30 | SLC22A5 | Zornitza Stark Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.29 | SLC22A5 | Zornitza Stark Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.28 | SLC22A5 | Zornitza Stark reviewed gene: SLC22A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine deficiency, systemic primary, MIM# 212140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.28 | PPARG | Zornitza Stark Marked gene: PPARG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.28 | PPARG | Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.28 | PPARG | Zornitza Stark Classified gene: PPARG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.28 | PPARG | Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.27 | PPARG | Zornitza Stark reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3578 | OXCT1 | Zornitza Stark Marked gene: OXCT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3578 | OXCT1 | Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3578 | OXCT1 | Zornitza Stark Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3577 | OXCT1 | Zornitza Stark Publications for gene: OXCT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3576 | OXCT1 | Zornitza Stark Mode of inheritance for gene: OXCT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3575 | OXCT1 | Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.27 | OXCT1 | Zornitza Stark Marked gene: OXCT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.27 | OXCT1 | Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.27 | OXCT1 | Zornitza Stark Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.26 | OXCT1 | Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11757586, 8844009; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.26 | NADK2 | Zornitza Stark Classified gene: NADK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.26 | NADK2 | Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.25 | NADK2 |
Zornitza Stark changed review comment from: Two families reported, rated as 'moderate' by ClinGen. Sources: Expert list; to: At least three families reported, rated as 'moderate' by ClinGen but only two families considered at time of assessment. Sources: Expert list |
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Fatty Acid Oxidation Defects v0.25 | NADK2 | Zornitza Stark edited their review of gene: NADK2: Changed rating: GREEN; Changed publications: 24847004, 27940755, 23212377, 28923496, 29388319; Changed phenotypes: 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.25 | NADK2 | Zornitza Stark Marked gene: NADK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.25 | NADK2 | Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.25 | NADK2 | Zornitza Stark Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.24 | NADK2 | Zornitza Stark Classified gene: NADK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.24 | NADK2 | Zornitza Stark Gene: nadk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.23 | NADK2 |
Zornitza Stark gene: NADK2 was added gene: NADK2 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NADK2 were set to 24847004; 27940755; 23212377; 28923496 Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Review for gene: NADK2 was set to AMBER Added comment: Two families reported, rated as 'moderate' by ClinGen. Sources: Expert list |
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Mendeliome v0.3575 | KCNJ1 | Zornitza Stark Marked gene: KCNJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3575 | KCNJ1 | Zornitza Stark Gene: kcnj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3575 | KCNJ1 | Zornitza Stark Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, 241200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3574 | KCNJ1 | Zornitza Stark Publications for gene: KCNJ1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3573 | KCNJ1 | Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3572 | ZFYVE27 | Zornitza Stark Marked gene: ZFYVE27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3572 | ZFYVE27 | Zornitza Stark Gene: zfyve27 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3572 | ZFYVE27 | Zornitza Stark Phenotypes for gene: ZFYVE27 were changed from to Spastic paraplegia 33, autosomal dominant MIM#610244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3571 | ZFYVE27 | Zornitza Stark Publications for gene: ZFYVE27 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3570 | ZFYVE27 | Zornitza Stark Mode of inheritance for gene: ZFYVE27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3569 | KLF10 | Zornitza Stark Marked gene: KLF10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3569 | KLF10 | Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3569 | KLF10 | Zornitza Stark Classified gene: KLF10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3569 | KLF10 | Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3568 | MYOZ2 | Zornitza Stark Marked gene: MYOZ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3568 | MYOZ2 | Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3568 | MYOZ2 | Zornitza Stark Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3567 | MYOZ2 | Zornitza Stark Publications for gene: MYOZ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3566 | MYOZ2 | Zornitza Stark Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3565 | MYOZ2 | Zornitza Stark Classified gene: MYOZ2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3565 | MYOZ2 | Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3564 | TRIM63 | Zornitza Stark Marked gene: TRIM63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3564 | TRIM63 | Zornitza Stark Added comment: Comment when marking as ready: Large case series published subsequent to ClinGen assessment. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3564 | TRIM63 | Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3564 | TRIM63 | Zornitza Stark Classified gene: TRIM63 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3564 | TRIM63 | Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3563 | PDLIM3 | Zornitza Stark Marked gene: PDLIM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3563 | PDLIM3 | Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3563 | PDLIM3 | Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3563 | PDLIM3 | Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3562 | PDLIM3 | Zornitza Stark Tag SV/CNV tag was added to gene: PDLIM3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3562 | OBSCN | Zornitza Stark Marked gene: OBSCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3562 | OBSCN | Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3562 | OBSCN | Zornitza Stark Classified gene: OBSCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3562 | OBSCN | Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.0 | SLC25A4 | Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.0 | SLC25A4 | Zornitza Stark Marked gene: SLC25A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.0 | SLC25A4 | Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic Atrophy v0.111 | AFG3L2 | Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic Atrophy v0.110 | AFG3L2 | Zornitza Stark Publications for gene: AFG3L2 were set to 29181157; 26539208; 30252181; 30389403 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic Atrophy v0.109 | AFG3L2 | Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic Atrophy v0.108 | AFG3L2 | Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Autosomal dominant optic atrophy, Autosomal recessive spastic ataxia 5, MIM#614487, Autosomal dominant spinocerebellar ataxia 28, MIM#610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic Atrophy v0.108 | AFG3L2 | Chern Lim Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Optic Atrophy v0.108 | AFG3L2 | Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.146 | MYH6 | Zornitza Stark Marked gene: MYH6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.146 | MYH6 | Zornitza Stark Gene: myh6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.146 | MYH6 | Zornitza Stark Phenotypes for gene: MYH6 were changed from to Hypertrophic cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.145 | MYH6 | Zornitza Stark Publications for gene: MYH6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.144 | MYH6 | Zornitza Stark Mode of inheritance for gene: MYH6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.143 | MYH6 | Zornitza Stark Classified gene: MYH6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.143 | MYH6 | Zornitza Stark Gene: myh6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.142 | PLN | Seb Lunke Marked gene: PLN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.142 | PLN | Seb Lunke Gene: pln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.142 | PRKAG2 | Zornitza Stark Marked gene: PRKAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.142 | PRKAG2 | Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.142 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.142 | PLN | Seb Lunke Phenotypes for gene: PLN were changed from to Cardiomyopathy, hypertrophic, 18 (MIM #613874) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.141 | PLN | Seb Lunke Publications for gene: PLN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.141 | PRKAG2 | Zornitza Stark Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, MIM# 600858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.140 | PRKAG2 | Zornitza Stark Publications for gene: PRKAG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.139 | PRKAG2 | Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.138 | PRKAG2 | Zornitza Stark reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.138 | PLN | Seb Lunke Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.137 | LAMP2 | Zornitza Stark Marked gene: LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.137 | LAMP2 | Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.137 | LAMP2 | Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease (MIM#300257) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.136 | LAMP2 | Zornitza Stark Publications for gene: LAMP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.135 | LAMP2 | Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.134 | LAMP2 | Zornitza Stark reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.134 | TTR | Seb Lunke Marked gene: TTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.134 | TTR | Seb Lunke Added comment: Comment when marking as ready: Can present predominantly with HCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.134 | TTR | Seb Lunke Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.134 | TTR | Seb Lunke Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related MIM#105210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.133 | TTR | Seb Lunke Publications for gene: TTR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.132 | GLA | Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease (MIM# 301500) to Fabry disease (MIM# 301500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.131 | GLA | Zornitza Stark Marked gene: GLA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.131 | GLA | Zornitza Stark Gene: gla has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.131 | TTR | Seb Lunke Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.131 | GLA | Zornitza Stark Phenotypes for gene: GLA were changed from to Fabry disease (MIM# 301500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.130 | GLA | Zornitza Stark Publications for gene: GLA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.130 | GLA | Zornitza Stark Mode of inheritance for gene: GLA 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.129 | GLA | Zornitza Stark Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.128 | GLA | Zornitza Stark reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.128 | GAA | Seb Lunke Marked gene: GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.128 | GAA | Seb Lunke Gene: gaa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.128 | GAA | Seb Lunke Classified gene: GAA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.128 | GAA | Seb Lunke Gene: gaa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.127 | FXN | Zornitza Stark Marked gene: FXN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.127 | FXN | Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.127 | FXN | Zornitza Stark Phenotypes for gene: FXN were changed from to Friedreich ataxia MIM#229300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.126 | FXN | Zornitza Stark Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.0 | SLC25A4 | Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.125 | FXN | Zornitza Stark Classified gene: FXN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.125 | FXN | Zornitza Stark Gene: fxn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.124 | SLC25A4 | Zornitza Stark Marked gene: SLC25A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.124 | SLC25A4 | Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.124 | SLC25A4 | Zornitza Stark Phenotypes for gene: SLC25A4 were changed from Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.124 | SLC25A4 | Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.123 | SLC25A4 | Zornitza Stark Publications for gene: SLC25A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.122 | SLC25A4 | Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.121 | MT-TI | Seb Lunke Marked gene: MT-TI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.121 | MT-TI | Seb Lunke Added comment: Comment when marking as ready: NOTE: Mitochondrial DNA gene not tractable by many commonly used genomics methods. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.121 | MT-TI | Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.121 | SLC25A4 | Zornitza Stark Classified gene: SLC25A4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.121 | SLC25A4 | Zornitza Stark Gene: slc25a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.120 | MT-TI | Seb Lunke Classified gene: MT-TI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.120 | MT-TI | Seb Lunke Gene: mt-ti has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.119 | MT-TI | Seb Lunke Tag mtDNA tag was added to gene: MT-TI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.119 | TTN | Zornitza Stark Marked gene: TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.119 | TTN | Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.119 | TTN | Zornitza Stark Phenotypes for gene: TTN were changed from to Hypertrophic cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.118 | TTN | Zornitza Stark Publications for gene: TTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.117 | TTN | Zornitza Stark Classified gene: TTN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.117 | TTN | Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.116 | TTN | Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.115 | FHOD3 | Seb Lunke Marked gene: FHOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.115 | FHOD3 | Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.115 | PTPN11 | Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome 1 MIM# 163950 to Noonan syndrome 1 MIM# 163950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.114 | FHOD3 | Seb Lunke Tag SV/CNV tag was added to gene: FHOD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.114 | PTPN11 | Zornitza Stark Marked gene: PTPN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.114 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.114 | PTPN11 | Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1 MIM# 163950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.114 | FHOD3 | Seb Lunke Classified gene: FHOD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.114 | FHOD3 | Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.113 | PTPN11 | Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.112 | PTPN11 | Zornitza Stark Classified gene: PTPN11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.112 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | OBSCN |
Paul De Fazio gene: OBSCN was added gene: OBSCN was added to Mendeliome. Sources: Literature Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914 Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy Review for gene: OBSCN was set to RED gene: OBSCN was marked as current diagnostic Added comment: Limited evidence by ClinGen working group. Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review). No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.111 | OBSCN | Paul De Fazio Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.111 | OBSCN |
Paul De Fazio commented on gene: OBSCN: Limited evidence by ClinGen working group. Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review). No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. |
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Hypertrophic cardiomyopathy_HCM v0.111 | RAF1 | Zornitza Stark Marked gene: RAF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.111 | RAF1 | Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.111 | RAF1 | Zornitza Stark Phenotypes for gene: RAF1 were changed from to Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.110 | RAF1 | Zornitza Stark Publications for gene: RAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.109 | RAF1 | Zornitza Stark Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.109 | RAF1 | Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.108 | RAF1 | Zornitza Stark Classified gene: RAF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.108 | RAF1 | Zornitza Stark Gene: raf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | PDLIM3 | Ain Roesley edited their review of gene: PDLIM3: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Marked gene: OBSCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Classified gene: OBSCN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.107 | OBSCN | Zornitza Stark Gene: obscn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | PDLIM3 |
Ain Roesley gene: PDLIM3 was added gene: PDLIM3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532 Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy Penetrance for gene: PDLIM3 were set to unknown Added comment: PMID: 30681346; LIMITED by ClinGen working group PMID: 26455666; 1x proband with multi-exon deletion PMID: 20801532; 1x proband het for a missense Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.106 | PDLIM3 | Zornitza Stark Marked gene: PDLIM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.106 | PDLIM3 | Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.106 | PDLIM3 | Zornitza Stark Classified gene: PDLIM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.106 | PDLIM3 | Zornitza Stark Gene: pdlim3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | TRIM63 |
Ain Roesley gene: TRIM63 was added gene: TRIM63 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM63 were set to 30681346; 32451364 Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy Penetrance for gene: TRIM63 were set to unknown Review for gene: TRIM63 was set to GREEN Added comment: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - segregated in 3 families - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Added comment: Comment when marking as ready: Gene is associated with CPVT phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Classified gene: RYR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.105 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Marked gene: MYPN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Classified gene: MYPN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.104 | MYPN | Zornitza Stark Gene: mypn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Marked gene: TRIM63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Classified gene: TRIM63 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | MYOZ2 | Paul De Fazio reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 28296734, 30681346, 22987565; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.102 | MYOZ2 | Zornitza Stark Marked gene: MYOZ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.102 | MYOZ2 | Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.102 | MYOZ2 | Zornitza Stark Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.101 | MYOZ2 | Zornitza Stark Publications for gene: MYOZ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.100 | MYOZ2 | Zornitza Stark Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.99 | MYOZ2 | Zornitza Stark Classified gene: MYOZ2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.99 | MYOZ2 | Zornitza Stark Gene: myoz2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | KLF10 | Paul De Fazio edited their review of gene: KLF10: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | KLF10 |
Paul De Fazio gene: KLF10 was added gene: KLF10 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF10 were set to 22234868 Phenotypes for gene: KLF10 were set to HCM gene: KLF10 was marked as current diagnostic Added comment: Curated by ClinGen and rated as limited evidence. Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature. Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.98 | JPH2 | Zornitza Stark Marked gene: JPH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.98 | JPH2 | Zornitza Stark Added comment: Comment when marking as ready: Note one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.98 | JPH2 | Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.98 | JPH2 | Zornitza Stark Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.97 | JPH2 | Zornitza Stark Publications for gene: JPH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.96 | JPH2 | Zornitza Stark Mode of inheritance for gene: JPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.95 | JPH2 | Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.95 | JPH2 | Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.94 | KLF10 | Zornitza Stark Marked gene: KLF10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.94 | KLF10 | Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.94 | KLF10 | Zornitza Stark Classified gene: KLF10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.94 | KLF10 | Zornitza Stark Gene: klf10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.93 | TNNC1 | Zornitza Stark Marked gene: TNNC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.93 | TNNC1 | Zornitza Stark Gene: tnnc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.93 | TNNC1 | Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, hypertrophic, 13 (MIM# 613243) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.92 | TNNC1 | Zornitza Stark Publications for gene: TNNC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.91 | TNNC1 | Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.90 | TNNC1 | Zornitza Stark Classified gene: TNNC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.90 | TNNC1 | Zornitza Stark Gene: tnnc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.58 | ATP2A1 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | PRKAG2 | Ain Roesley reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: PRKAG2-cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | PLN | Ain Roesley reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | LAMP2 | Ain Roesley reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | TTR | Paul De Fazio reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28475415, 31554435; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | GLA | Ain Roesley reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | GAA | Paul De Fazio edited their review of gene: GAA: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | GAA | Paul De Fazio reviewed gene: GAA: Rating: RED; Mode of pathogenicity: None; Publications: 27142047; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | FXN | Paul De Fazio reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MIM#229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Marked gene: FLAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Classified gene: FLAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.22 | FLAD1 | Zornitza Stark Gene: flad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.21 | FLAD1 |
Zornitza Stark gene: FLAD1 was added gene: FLAD1 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505 Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 Review for gene: FLAD1 was set to AMBER Added comment: Classified as moderate by ClinGen. The classification for FLAD1 was based on eight cases from the literature harbouring mostly frameshift variants in exons 1 or 2, biochemical studies and in vitro studies. Many of the frameshift variants in FLAD1 were predicted to be loss-of-function. However, Olsen et al. noted that homozygous loss-of-function variants in FLAD1 would be unlikely as FLAD1 encodes the only known enzyme to catalyze the synthesis of flavin adenine dinucleotide (FAD) from flavin mononucleotide (FMN), an essential metabolic process. This led the authors to discover previously unknown isoforms that were residually expressed in these patients. Therefore, ClinGen downgraded points for each of these variants to the default points for non-loss-of-function variants, resulting in the 'Moderate' assessment. Sources: Expert list |
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Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Marked gene: ECHS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Classified gene: ECHS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.20 | ECHS1 | Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.19 | ECHS1 |
Zornitza Stark gene: ECHS1 was added gene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 31399326; 25125611; 25393721 Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Review for gene: ECHS1 was set to GREEN Added comment: Assessed as Definitive by the ClinGen FAOD working group. Sources: Expert list |
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Fatty Acid Oxidation Defects v0.18 | ACAT1 | Zornitza Stark Marked gene: ACAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.18 | ACAT1 | Zornitza Stark Added comment: Comment when marking as ready: Definitive by ClinGen. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.18 | ACAT1 | Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.18 | ACADS | Zornitza Stark Marked gene: ACADS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.18 | ACADS | Zornitza Stark Gene: acads has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.18 | ACADS | Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.17 | ACADS | Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.16 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.16 | ACADM | Zornitza Stark Marked gene: ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.16 | ACADM | Zornitza Stark Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.16 | ACADM | Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.15 | ACADM | Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.14 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | SLC25A4 | Paul De Fazio changed review comment from: Associated with mitochondrial DNA depletion syndrome for which cardiomyopathy is a feature. Not associated with isolated HCM.; to: Associated with mitochondrial DNA depletion syndrome for which HCM is a feature. Not associated with isolated HCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | SLC25A4 | Paul De Fazio reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: None; Publications: 16155110; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI |
Paul De Fazio changed review comment from: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion PMID: 23332932 Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM. Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated. Sources: Literature; to: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion, other mtDNA abnormalities were also identified in this family. PMID: 23332932 Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM. Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated. Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI | Paul De Fazio edited their review of gene: MT-TI: Changed publications: 12767666, 30025578, 29481798, 23332932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI |
Paul De Fazio changed review comment from: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion Seems to be an association with HCM but also DCM and other mito-related phenotypes? Sources: Literature; to: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion PMID: 23332932 Describe the morphologic, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families (2x m.4300A>G, 1x m.4277C>T) with HCM. Seems to be an association with HCM but also possibly DCM? Not sure if this belongs on this panel. The HCM in the literature appears to be isolated. Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.89 | MT-TI |
Paul De Fazio gene: MT-TI was added gene: MT-TI was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL Publications for gene: MT-TI were set to 12767666; 30025578; 29481798 Phenotypes for gene: MT-TI were set to Hypertrophic cardiomyopathy Review for gene: MT-TI was set to AMBER gene: MT-TI was marked as current diagnostic Added comment: PMID: 12767666 2 families with maternally inherited HCM, variants were homoplasmic in tested affecteds (m.4300A>G) PMID: 30025578 1 family with HCM, variant was homoplasmic (m.4300A>G) PMID: 29481798 Homoplasmic m.4318-4322delC in one family with DCM and mitochondrial DNA depletion Seems to be an association with HCM but also DCM and other mito-related phenotypes? Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.89 | TTN | Dean Phelan reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27625337, 31628103; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | KCNJ1 | Elena Savva reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28630040; Phenotypes: Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | FHOD3 |
Ain Roesley changed review comment from: PMID: 32335906; Deletion of exon 15-16 in 3 families PMID: 31742804 - 7 affecteds in a 3-generation family, het for p.(Ser527del) - 1 genotype positive, phenotype negative family member - 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects PMID: 30442288; - 60 HCM patients with no other variants in other sarcomeric genes - segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) Sources: Literature; to: PMID: 32335906; Deletion of exon 15-16 in 3 families PMID: 31742804 - 7 affecteds in a 3-generation family, het for p.(Ser527del) - 1 genotype positive, phenotype negative family member - 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects PMID: 30442288; - 60 HCM probands with no other variants in other sarcomeric genes - segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.89 | FHOD3 |
Ain Roesley gene: FHOD3 was added gene: FHOD3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288 Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy Penetrance for gene: FHOD3 were set to unknown Review for gene: FHOD3 was set to GREEN Added comment: PMID: 32335906; Deletion of exon 15-16 in 3 families PMID: 31742804 - 7 affecteds in a 3-generation family, het for p.(Ser527del) - 1 genotype positive, phenotype negative family member - 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects PMID: 30442288; - 60 HCM patients with no other variants in other sarcomeric genes - segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) Sources: Literature |
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Hair disorders v0.18 | RPL21 | Bryony Thompson Marked gene: RPL21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.18 | RPL21 | Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.18 | RPL21 | Bryony Thompson Classified gene: RPL21 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.18 | RPL21 | Bryony Thompson Added comment: Comment on list classification: No supporting publications since the original in 2011. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.18 | RPL21 | Bryony Thompson Gene: rpl21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.17 | RPL21 |
Bryony Thompson gene: RPL21 was added gene: RPL21 was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: RPL21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL21 were set to 21412954 Phenotypes for gene: RPL21 were set to Hypotrichosis 12 MIM#615885 Review for gene: RPL21 was set to AMBER Added comment: 2 unrelated Chinese families with the same missense (R32Q). Haplotype analysis revealed no founder effect in the 2 families. No functional assays were performed. Sources: NHS GMS |
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Hypertrophic cardiomyopathy_HCM v0.89 | PTPN11 | Paul De Fazio reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 1 MIM# 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.16 | DSC3 | Bryony Thompson Marked gene: DSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.16 | DSC3 | Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.16 | DSC3 | Bryony Thompson Classified gene: DSC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.16 | DSC3 | Bryony Thompson Gene: dsc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.15 | DSC3 |
Bryony Thompson gene: DSC3 was added gene: DSC3 was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSC3 were set to 19765682; 31790667; 18682494 Phenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles MIM#613102 Review for gene: DSC3 was set to AMBER Added comment: 2 unrelated cases reported with homozygous nonsense mutations. A conditional null allele in a mouse model shows that loss of Dsc3 function in the epidermis causes impaired cell-cell adhesion, leading to intra-epidermal blistering and telogen hair loss. Sources: NHS GMS |
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Hypertrophic cardiomyopathy_HCM v0.89 | RAF1 | Paul De Fazio reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN MIM#615916, Noonan syndrome 5 MIM#611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.14 | SNRPE | Bryony Thompson Marked gene: SNRPE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.14 | SNRPE | Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.14 | SNRPE | Bryony Thompson Classified gene: SNRPE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.14 | SNRPE | Bryony Thompson Gene: snrpe has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.13 | SNRPE |
Bryony Thompson gene: SNRPE was added gene: SNRPE was added to Hair disorders. Sources: NHS GMS Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNRPE were set to 23246290 Phenotypes for gene: SNRPE were set to Hypotrichosis 11 MIM#615059 Review for gene: SNRPE was set to AMBER Added comment: 3 unrelated families with 2 different variants (segregation of Met1? variant in 2 families), and supporting in vitro functional assays. Sources: NHS GMS |
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Hair disorders v0.12 | TGM3 | Bryony Thompson Marked gene: TGM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.12 | TGM3 | Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.12 | TGM3 | Bryony Thompson Classified gene: TGM3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.12 | TGM3 | Bryony Thompson Gene: tgm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | TGM3 | Bryony Thompson reviewed gene: TGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27866708, 26194162; Phenotypes: Uncombable hair syndrome 2 MIM#617251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | TCHH | Bryony Thompson Marked gene: TCHH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | TCHH | Bryony Thompson Gene: tchh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | TCHH | Bryony Thompson reviewed gene: TCHH: Rating: RED; Mode of pathogenicity: None; Publications: 27866708; Phenotypes: Uncombable hair syndrome 3 MIM#617252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | OBSCN |
Paul De Fazio gene: OBSCN was added gene: OBSCN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914 Phenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy Review for gene: OBSCN was set to RED gene: OBSCN was marked as current diagnostic Added comment: Limited evidence by ClinGen working group. Via ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review). No additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. Sources: Literature |
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Hair disorders v0.11 | KRT74 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | BCS1L | Bryony Thompson Marked gene: BCS1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | BCS1L | Bryony Thompson Gene: bcs1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | LSS | Bryony Thompson Marked gene: LSS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | LSS | Bryony Thompson Gene: lss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | LSS | Bryony Thompson Classified gene: LSS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.11 | LSS | Bryony Thompson Gene: lss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.9 | LSS |
Bryony Thompson gene: LSS was added gene: LSS was added to Hair disorders. Sources: Literature Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal |
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Mendeliome v0.3561 | KRT71 | Bryony Thompson Marked gene: KRT71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | KRT71 | Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | KRT71 | Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3561 | KRT71 | Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3560 | KRT71 |
Bryony Thompson gene: KRT71 was added gene: KRT71 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT71 were set to 14632181; 22592156; 19713490 Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896 Review for gene: KRT71 was set to AMBER Added comment: A single family with 3 affected members of a 3-generation Japanese family segregating a missense variant (F141C) with autosomal dominant woolly hair/hypotrichosis, with supporting functional assays and animal models. Sources: Literature |
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Hair disorders v0.8 | KRT71 | Bryony Thompson Marked gene: KRT71 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.8 | KRT71 | Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.8 | KRT71 | Bryony Thompson Publications for gene: KRT71 were set to 31332722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.7 | KRT71 | Bryony Thompson Classified gene: KRT71 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.7 | KRT71 | Bryony Thompson Gene: krt71 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.6 | KRT71 | Bryony Thompson reviewed gene: KRT71: Rating: AMBER; Mode of pathogenicity: None; Publications: 14632181, 22592156, 19713490; Phenotypes: Hypotrichosis 13 MIM#615896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.6 | GTF2H5 | Bryony Thompson Marked gene: GTF2H5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.6 | GTF2H5 | Bryony Thompson Gene: gtf2h5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.6 | GTF2H5 | Bryony Thompson Publications for gene: GTF2H5 were set to 31332722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.5 | GTF2H5 | Bryony Thompson reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 28833524, 15220921, 8213812, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive MIM#616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | PDLIM3 |
Ain Roesley gene: PDLIM3 was added gene: PDLIM3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDLIM3 were set to 30681346; 26455666; 20801532 Phenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy Penetrance for gene: PDLIM3 were set to unknown Review for gene: PDLIM3 was set to RED Added comment: PMID: 30681346; LIMITED by ClinGen working group PMID: 26455666; 1x proband with multi-exon deletion PMID: 20801532; 1x proband het for a missense Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.89 | RYR2 |
Paul De Fazio gene: RYR2 was added gene: RYR2 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30681346; 26573135; 22515980; 26656175; 30835254 Phenotypes for gene: RYR2 were set to Hypertrophic cardiomyopathy Review for gene: RYR2 was set to AMBER gene: RYR2 was marked as current diagnostic Added comment: Limited evidence by ClinGen working group. Via Clingen: 8 probands with HCM across 4 publications. A mouse model lends support to pathogenicity. No additional reports in association with HCM found. Sources: Literature |
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Hair disorders v0.5 | RNF113A | Bryony Thompson Marked gene: RNF113A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.5 | RNF113A | Bryony Thompson Gene: rnf113a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.5 | TARS | Bryony Thompson Marked gene: TARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.5 | TARS | Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.5 | TARS | Bryony Thompson Publications for gene: TARS were set to 31332722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3559 | ACADL | Zornitza Stark Tag disputed tag was added to gene: ACADL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.4 | TARS | Bryony Thompson Classified gene: TARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.4 | TARS | Bryony Thompson Gene: tars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3559 | ACADL | Zornitza Stark Marked gene: ACADL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3559 | ACADL | Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3559 | ACADL | Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3558 | ACADL | Zornitza Stark Publications for gene: ACADL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3557 | ACADL | Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3556 | ACADL | Zornitza Stark Classified gene: ACADL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3556 | ACADL | Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3555 | ACADL | Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.14 | ACADL | Zornitza Stark Tag disputed tag was added to gene: ACADL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.14 | ACADL | Zornitza Stark Marked gene: ACADL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.14 | ACADL | Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.14 | ACADL | Zornitza Stark Phenotypes for gene: ACADL were changed from to Pulmonary surfactant dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | MYPN |
Ain Roesley gene: MYPN was added gene: MYPN was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYPN were set to 30681346; 20801532; 22286171 Phenotypes for gene: MYPN were set to Cardiomyopathy, hypertrophic, 22 (MIM# 615248) Penetrance for gene: MYPN were set to unknown Review for gene: MYPN was set to RED Added comment: PMID: 30681346; LIMITED by ClinGen working group. Extract from ClinGen's curation: Variants in this gene have been reported in at least 8 probands in 2 publications (PMIDs: 20801532, 22286171). This gene disease association is supported by expression studies, functional assays, and animal models. In summary, there is limited evidence to support this gene-disease relationship Sources: Literature |
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Fatty Acid Oxidation Defects v0.13 | ACADL | Zornitza Stark Publications for gene: ACADL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.12 | ACADL | Zornitza Stark Mode of inheritance for gene: ACADL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.11 | ACADL | Zornitza Stark Classified gene: ACADL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.11 | ACADL | Zornitza Stark Gene: acadl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.10 | ACADL | Zornitza Stark reviewed gene: ACADL: Rating: RED; Mode of pathogenicity: None; Publications: 24591516, 31399326; Phenotypes: Pulmonary surfactant dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | TRIM63 |
Ain Roesley changed review comment from: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature; to: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - segregated in 3 families - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature |
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Fatty Acid Oxidation Defects v0.10 | ACAD9 | Zornitza Stark Marked gene: ACAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.10 | ACAD9 | Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.10 | ACAD9 | Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.9 | ACAD9 | Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fatty Acid Oxidation Defects v0.8 | ACAD9 | Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | TRIM63 |
Ain Roesley gene: TRIM63 was added gene: TRIM63 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM63 were set to 30681346; 32451364 Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy Penetrance for gene: TRIM63 were set to unknown Review for gene: TRIM63 was set to GREEN Added comment: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature |
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Hypertrophic cardiomyopathy_HCM v0.89 | MYOZ2 |
Paul De Fazio changed review comment from: Limited evidence by ClinGen working group. Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. A review of the literature finds no other reports.; to: Limited evidence by ClinGen working group. Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function. A review of the literature finds no other reports. |
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Hypertrophic cardiomyopathy_HCM v0.89 | MYOZ2 | Paul De Fazio edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 28296734, 30681346, 22987565 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | MYOZ2 | Paul De Fazio edited their review of gene: MYOZ2: Changed publications: 17347475, 18591919, 11114196, 30681346 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | MYOZ2 | Paul De Fazio reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 11114196, 11114196, 30681346; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.3 | RNF113A | Bryony Thompson reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive MIM##300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.452 | TWNK | Zornitza Stark Marked gene: TWNK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.452 | TWNK | Zornitza Stark Gene: twnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.452 | TWNK | Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.451 | TWNK | Zornitza Stark Publications for gene: TWNK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.450 | TWNK | Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.449 | TWNK | Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3555 | TWNK | Zornitza Stark Marked gene: TWNK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3555 | TWNK | Zornitza Stark Gene: twnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3555 | TWNK | Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | JPH2 | Paul De Fazio reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3554 | TWNK | Zornitza Stark Publications for gene: TWNK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | KLF10 |
Naomi Baker gene: KLF10 was added gene: KLF10 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF10 were set to PMID: 22234868 Phenotypes for gene: KLF10 were set to HCM Review for gene: KLF10 was set to RED Added comment: Curated by ClinGen and rated as limited evidence. Misssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature. Sources: Literature |
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Mendeliome v0.3553 | TWNK | Zornitza Stark Mode of pathogenicity for gene: TWNK was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3552 | TWNK | Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3551 | TWNK | Elena Savva reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrophic cardiomyopathy_HCM v0.89 | TNNC1 | Ain Roesley reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.78 | RAD51C | Zornitza Stark Marked gene: RAD51C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.78 | RAD51C | Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.78 | RAD51C | Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.77 | RAD51C | Zornitza Stark Publications for gene: RAD51C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.76 | RAD51C | Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.75 | RAD51C | Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.20 | UBE2T | Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3551 | UBE2T | Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3551 | UBE2T | Zornitza Stark Classified gene: UBE2T as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3551 | UBE2T | Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3550 | UBE2T | Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.20 | UBE2T | Zornitza Stark Classified gene: UBE2T as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.20 | UBE2T | Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.19 | UBE2T | Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.75 | UBE2T | Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.75 | UBE2T | Zornitza Stark Classified gene: UBE2T as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.75 | UBE2T | Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.74 | UBE2T | Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888; Changed phenotypes: Fanconi anemia, complementation group T, MIM# 616435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.11 | CEACAM16 | Zornitza Stark Marked gene: CEACAM16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.11 | CEACAM16 | Zornitza Stark Gene: ceacam16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.11 | CEACAM16 | Zornitza Stark Classified gene: CEACAM16 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.11 | CEACAM16 | Zornitza Stark Gene: ceacam16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3550 | P2RX2 | Zornitza Stark Marked gene: P2RX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3550 | P2RX2 | Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3550 | P2RX2 | Zornitza Stark Phenotypes for gene: P2RX2 were changed from to Deafness, autosomal dominant 41, MIM# 608224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3549 | P2RX2 | Zornitza Stark Publications for gene: P2RX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3548 | P2RX2 | Zornitza Stark Mode of inheritance for gene: P2RX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3547 | P2RX2 | Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.10 | P2RX2 | Zornitza Stark Marked gene: P2RX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.10 | P2RX2 | Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.10 | P2RX2 | Zornitza Stark Publications for gene: P2RX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.9 | P2RX2 | Zornitza Stark reviewed gene: P2RX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345450, 24211385; Phenotypes: Deafness, autosomal dominant 41, MIM# 608224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.9 | P2RX2 | Zornitza Stark Classified gene: P2RX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.9 | P2RX2 | Zornitza Stark Gene: p2rx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.8 | NARS2 | Zornitza Stark reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25807530; Phenotypes: Deafness, autosomal recessive 94, MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.8 | NARS2 | Zornitza Stark Marked gene: NARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.8 | NARS2 | Zornitza Stark Gene: nars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.8 | NARS2 | Zornitza Stark Publications for gene: NARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.7 | NARS2 | Zornitza Stark Classified gene: NARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.7 | NARS2 | Zornitza Stark Gene: nars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3547 | KCNQ4 | Zornitza Stark Marked gene: KCNQ4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3547 | KCNQ4 | Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3547 | KCNQ4 | Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3546 | KCNQ4 | Zornitza Stark Publications for gene: KCNQ4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3545 | KCNQ4 | Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3544 | KCNQ4 | Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.372 | KCNQ4 | Zornitza Stark Marked gene: KCNQ4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.372 | KCNQ4 | Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.372 | KCNQ4 | Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.371 | KCNQ4 | Zornitza Stark Publications for gene: KCNQ4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.370 | KCNQ4 | Zornitza Stark Mode of inheritance for gene: KCNQ4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.369 | KCNQ4 | Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.6 | KCNQ4 | Zornitza Stark reviewed gene: KCNQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369879; Phenotypes: Deafness, autosomal dominant 2A, MIM# 600101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.6 | KCNQ4 | Zornitza Stark Marked gene: KCNQ4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.6 | KCNQ4 | Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.6 | KCNQ4 | Zornitza Stark Publications for gene: KCNQ4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.5 | KCNQ4 | Zornitza Stark Phenotypes for gene: KCNQ4 were changed from to Deafness, autosomal dominant 2A, MIM# 600101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.4 | KCNQ4 | Zornitza Stark Classified gene: KCNQ4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.4 | KCNQ4 | Zornitza Stark Gene: kcnq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.3 | CEACAM16 | Lilian Downie reviewed gene: CEACAM16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: AD and AR deafness: adult onset; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.3 | NARS2 | Lilian Downie edited their review of gene: NARS2: Added comment: Amber for isolated childhood onset; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_Isolated v0.3 | P2RX2 |
Lilian Downie gene: P2RX2 was added gene: P2RX2 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: P2RX2 were set to Deafness, autosomal dominant 41, MIM#608224 Review for gene: P2RX2 was set to GREEN Added comment: Sources: Expert list |
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Deafness_Isolated v0.3 | NARS2 |
Lilian Downie gene: NARS2 was added gene: NARS2 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NARS2 were set to Deafness, autosomal recessive 94, MIM#618434 Review for gene: NARS2 was set to GREEN Added comment: Sources: Expert list |
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Deafness_Isolated v0.3 | KCNQ4 |
Lilian Downie gene: KCNQ4 was added gene: KCNQ4 was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: KCNQ4 was set to GREEN Added comment: Sources: Expert list |
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Cardiomyopathy_Paediatric v0.0 | UQCRB |
Zornitza Stark gene: UQCRB was added gene: UQCRB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRB were set to 12709789; 25446085; 28604960 Phenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency, nuclear type 3, 615158 |
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Cardiomyopathy_Paediatric v0.0 | TTC19 |
Zornitza Stark gene: TTC19 was added gene: TTC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 |
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Cardiomyopathy_Paediatric v0.0 | TMPO |
Zornitza Stark gene: TMPO was added gene: TMPO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMPO were set to Dilated Cardiomyopathy, Dominant |
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Cardiomyopathy_Paediatric v0.0 | TGFB3 |
Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia 1 |
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Cardiomyopathy_Paediatric v0.0 | TCAP |
Zornitza Stark gene: TCAP was added gene: TCAP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCAP were set to 21530252; 23479141 Phenotypes for gene: TCAP were set to Congenital muscular dystrophies; Cardiomyopathy, dilated, 1N |
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Cardiomyopathy_Paediatric v0.0 | TACO1 |
Zornitza Stark gene: TACO1 was added gene: TACO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | TAB2 |
Zornitza Stark gene: TAB2 was added gene: TAB2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: TAB2 was set to Unknown |
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Cardiomyopathy_Paediatric v0.0 | SPRED1 |
Zornitza Stark gene: SPRED1 was added gene: SPRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Red Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPRED1 were set to 19366998; 19443465; 21649642; 21548021; 17704776 Phenotypes for gene: SPRED1 were set to Legius syndrome 611431 |
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Cardiomyopathy_Paediatric v0.0 | NEBL |
Zornitza Stark gene: NEBL was added gene: NEBL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF8 |
Zornitza Stark gene: NDUFAF8 was added gene: NDUFAF8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF6 |
Zornitza Stark gene: NDUFAF6 was added gene: NDUFAF6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Victorian Clinical Genetics Services,Expert Review Red,MetBioNet Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA9 |
Zornitza Stark gene: NDUFA9 was added gene: NDUFA9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA9 were set to 28671271; 22114105 Phenotypes for gene: NDUFA9 were set to Mitochondrial complex I deficiency, nuclear type 26, 618247 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA6 |
Zornitza Stark gene: NDUFA6 was added gene: NDUFA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253 |
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Cardiomyopathy_Paediatric v0.0 | LYRM7 |
Zornitza Stark gene: LYRM7 was added gene: LYRM7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LYRM7 were set to 29353736 Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 |
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Cardiomyopathy_Paediatric v0.0 | LAMA4 |
Zornitza Stark gene: LAMA4 was added gene: LAMA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Cardiomyopathy_Paediatric v0.0 | ILK |
Zornitza Stark gene: ILK was added gene: ILK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: ILK was set to Unknown |
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Cardiomyopathy_Paediatric v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNS were set to 27604308 Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940; Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIID; Mucopolysaccharidosis, Type III; MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) |
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Cardiomyopathy_Paediatric v0.0 | GLRA1 |
Zornitza Stark gene: GLRA1 was added gene: GLRA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH 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, 149400 |
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Cardiomyopathy_Paediatric v0.0 | GBE1 |
Zornitza Stark gene: GBE1 was added gene: GBE1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH,MetBioNet Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 27604308 Phenotypes for gene: GBE1 were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen storage disease type IV, Andersen (Glycogen storage disorders); Glycogen storage disease IV, 232500; hypotonia, exercise intolerance, polyglucosan bodies in affected tissues; Glycogen Storage Disease Type IV; failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; DCM; Polyglucosan body disease, adult form, 263570; Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form; Hypertrophic-hypocontractile cardiomyopathy; Glycogen Storage Disease |
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Cardiomyopathy_Paediatric v0.0 | GALNS |
Zornitza Stark gene: GALNS was added gene: GALNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNS were set to 27604308 Phenotypes for gene: GALNS were set to Mucopolysaccharidosis Type IVA; MPS IVA, Morquio A disease (MPS IV, Morquio disease); MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis IVA, 253000 |
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Cardiomyopathy_Paediatric v0.0 | ETFDH |
Zornitza Stark gene: ETFDH was added gene: ETFDH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 24816252; 27604308 Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIC; Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); HCM; ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation); Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C |
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Cardiomyopathy_Paediatric v0.0 | ETFB |
Zornitza Stark gene: ETFB was added gene: ETFB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 27604308 Phenotypes for gene: ETFB were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); HCM; Glutaric acidemia IIB; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) |
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Cardiomyopathy_Paediatric v0.0 | ETFA |
Zornitza Stark gene: ETFA was added gene: ETFA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFA were set to 27604308 Phenotypes for gene: ETFA were set to Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II); Glutaric acidemia IIA; Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation); HCM; Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia |
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Cardiomyopathy_Paediatric v0.0 | DTNA |
Zornitza Stark gene: DTNA was added gene: DTNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects, |
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Cardiomyopathy_Paediatric v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 27604308 Phenotypes for gene: DHCR7 were set to Cataracts; Intellectual disability; Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis); Disorders of sex development; IUGR and IGF abnormalities |
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Cardiomyopathy_Paediatric v0.0 | CYC1 |
Zornitza Stark gene: CYC1 was added gene: CYC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYC1 were set to Mitochondrial complex III deficiency, nuclear type 6, 615453 |
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Cardiomyopathy_Paediatric v0.0 | CTF1 |
Zornitza Stark gene: CTF1 was added gene: CTF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,South West GLH Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 24816252; 27604308 Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) |
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Cardiomyopathy_Paediatric v0.0 | COX6A1 |
Zornitza Stark gene: COX6A1 was added gene: COX6A1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039 |
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Cardiomyopathy_Paediatric v0.0 | COA7 |
Zornitza Stark gene: COA7 was added gene: COA7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 29718187; 27683825 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 |
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Cardiomyopathy_Paediatric v0.0 | BTK |
Zornitza Stark gene: BTK was added gene: BTK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: BTK was set to Unknown |
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Cardiomyopathy_Paediatric v0.0 | BCS1L |
Zornitza Stark gene: BCS1L was added gene: BCS1L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000 |
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Cardiomyopathy_Paediatric v0.0 | B3GAT3 |
Zornitza Stark gene: B3GAT3 was added gene: B3GAT3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 27604308 Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600; B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Cardiomyopathy_Paediatric v0.0 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,MetBioNet Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | ANKRD1 |
Zornitza Stark gene: ANKRD1 was added gene: ANKRD1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD1 were set to Dilated Cardiomyopathy, Dominant |
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Cardiomyopathy_Paediatric v0.0 | UQCC2 |
Zornitza Stark gene: UQCC2 was added gene: UQCC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCC2 were set to 28804536; 24385928 Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, 615824 |
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Cardiomyopathy_Paediatric v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 27604308 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III |
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Cardiomyopathy_Paediatric v0.0 | RASA2 |
Zornitza Stark gene: RASA2 was added gene: RASA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Amber Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RASA2 were set to PMID: 25049390 Phenotypes for gene: RASA2 were set to Noonan syndrome? |
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Cardiomyopathy_Paediatric v0.0 | PET100 |
Zornitza Stark gene: PET100 was added gene: PET100 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | NDUFB8 |
Zornitza Stark gene: NDUFB8 was added gene: NDUFB8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB8 were set to 29429571; 27290639 Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA4 |
Zornitza Stark gene: NDUFA4 was added gene: NDUFA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA4 were set to 23746447, 29636225 Phenotypes for gene: NDUFA4 were set to No OMIM phenotype |
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Cardiomyopathy_Paediatric v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGLU were set to 27604308 Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis Type III; MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III; MUCOPOLYSACCHARIDOSIS TYPE 3B; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920; Mucopolysaccharidosis Type IIIB |
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Cardiomyopathy_Paediatric v0.0 | NAA15 |
Zornitza Stark gene: NAA15 was added gene: NAA15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | MT-TI |
Zornitza Stark gene: MT-TI was added gene: MT-TI was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL |
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Cardiomyopathy_Paediatric v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | LDB3 |
Zornitza Stark gene: LDB3 was added gene: LDB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDB3 were set to Left ventricular noncompaction 3, with or without dilated cardiomyopathy; Cardiomyopathy, dilated 1C |
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Cardiomyopathy_Paediatric v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308; 21048366 Phenotypes for gene: HGSNAT were set to MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73 |
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Cardiomyopathy_Paediatric v0.0 | HFE |
Zornitza Stark gene: HFE was added gene: HFE was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 27604308 Phenotypes for gene: HFE were set to Hemochromatosis, 235200; Hemochromatosis; Hereditary haemochromatosis Type 1 (Disorder of iron metabolism); DCM; Haemochromatosis; Iron overload, liver disease, diabetes, hypogonadism; HCM; Hypertrophic-hypocontractile cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | GLA |
Zornitza Stark gene: GLA was added gene: GLA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Amber,NHS GMS,South West GLH Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 27604308 Phenotypes for gene: GLA were set to Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500; Fabry Disease; HCM; syndromic HCM; Limb pain, angiokeratom; Fabry disease; HCM is a late complication in adults, also found in female carriers |
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Cardiomyopathy_Paediatric v0.0 | GATA6 |
Zornitza Stark gene: GATA6 was added gene: GATA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | FOXRED1 |
Zornitza Stark gene: FOXRED1 was added gene: FOXRED1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241 |
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Cardiomyopathy_Paediatric v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal |
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Cardiomyopathy_Paediatric v0.0 | FASTKD2 |
Zornitza Stark gene: FASTKD2 was added gene: FASTKD2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 28499982 Phenotypes for gene: FASTKD2 were set to ?Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | EYA4 |
Zornitza Stark gene: EYA4 was added gene: EYA4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Amber Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EYA4 were set to Cardiomyopathy, dilated, 1J |
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Cardiomyopathy_Paediatric v0.0 | CRYAB |
Zornitza Stark gene: CRYAB was added gene: CRYAB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAB were set to Cardiomyopathy, dilated, 1II,; Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 |
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Cardiomyopathy_Paediatric v0.0 | COX7B |
Zornitza Stark gene: COX7B was added gene: COX7B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COX7B were set to Linear skin defects with multiple congenital anomalies 2, 300887 |
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Cardiomyopathy_Paediatric v0.0 | ANK2 |
Zornitza Stark gene: ANK2 was added gene: ANK2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | VCL |
Zornitza Stark gene: VCL was added gene: VCL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCL were set to Cardiomyopathy, familial hypertrophic, 15,; Cardiomyopathy, dilated, 1W |
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Cardiomyopathy_Paediatric v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 31118583; 31131842; 31111153; 30878017; 30120737 Phenotypes for gene: TTR were set to syndromic HCM |
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Cardiomyopathy_Paediatric v0.0 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTN were set to http://www.ncbi.nlm.nih.gov/pubmed/22335739 Phenotypes for gene: TTN were set to Cardiomyopathy, familial hypertrophic, 9,; Cardiomyopathy, dilated, 1G |
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Cardiomyopathy_Paediatric v0.0 | TSFM |
Zornitza Stark gene: TSFM was added gene: TSFM was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308 Phenotypes for gene: TSFM were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 3, 610505; Combined oxidative phosphorylation deficiency 3 610505 |
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Cardiomyopathy_Paediatric v0.0 | TPM1 |
Zornitza Stark gene: TPM1 was added gene: TPM1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9,; Cardiomyopathy, dilated, 1Y; Cardiomyopathy, familial hypertrophic, 3 |
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Cardiomyopathy_Paediatric v0.0 | TNNT2 |
Zornitza Stark gene: TNNT2 was added gene: TNNT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial hypertrophic, 2; Hypertrophic cardiomyopathy; Left ventricular noncompaction 6, |
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Cardiomyopathy_Paediatric v0.0 | TNNI3K |
Zornitza Stark gene: TNNI3K was added gene: TNNI3K was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117 |
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Cardiomyopathy_Paediatric v0.0 | TNNI3 |
Zornitza Stark gene: TNNI3 was added gene: TNNI3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 2A,; Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, dilated, 1FF; Hypertrophic cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | TNNC1 |
Zornitza Stark gene: TNNC1 was added gene: TNNC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNC1 were set to Cardiomyopathy, familial hypertrophic, 13,; Cardiomyopathy, dilated, 1Z |
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Cardiomyopathy_Paediatric v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 |
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Cardiomyopathy_Paediatric v0.0 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,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; Emery-Dreifuss muscular dystrophy 7, AD 614302 |
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Cardiomyopathy_Paediatric v0.0 | TMEM126B |
Zornitza Stark gene: TMEM126B was added gene: TMEM126B was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374773; 27374774 Phenotypes for gene: TMEM126B were set to Mitochondrial complex I deficiency, nuclear type 29, 618250 |
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Cardiomyopathy_Paediatric v0.0 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH 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 27604308 Phenotypes for gene: TAZ were set to Barth syndrome, 302060; Dilated Cardiomyopathy, X-Linked; Left Ventricular Noncompaction Cardiomyopathy; Neutropenia, muscle weakness, growth retardation; Non-compaction cardiomyopathy; HCM, mixed; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial lipid metabolism; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Barth syndrome |
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Cardiomyopathy_Paediatric v0.0 | SURF1 |
Zornitza Stark gene: SURF1 was added gene: SURF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 |
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Cardiomyopathy_Paediatric v0.0 | SOS2 |
Zornitza Stark gene: SOS2 was added gene: SOS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 26173643; 25795793 Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559; Noonan syndrome 9 Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | SOS1 |
Zornitza Stark gene: SOS1 was added gene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837 Phenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 |
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Cardiomyopathy_Paediatric v0.0 | SLC25A20 |
Zornitza Stark gene: SLC25A20 was added gene: SLC25A20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM |
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Cardiomyopathy_Paediatric v0.0 | SLC22A5 |
Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 24816252; 27604308 Phenotypes for gene: SLC22A5 were set to HCM, mixed; Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle); Arrhythmia, muscle weakness or hypotonia, liver disease, hypoketotic hypoglycaemia; DCM; Carnitine transporter deficiency (primary carnitine deficiency); Propionicacidemia |
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Cardiomyopathy_Paediatric v0.0 | SHOC2 |
Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146 Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair; syndromic HCM Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | SGCD |
Zornitza Stark gene: SGCD was added gene: SGCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCD were set to 10735275; 18779423; 23900355 Phenotypes for gene: SGCD were set to Cardiomyopathy, dilated, 1L, 606685 |
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Cardiomyopathy_Paediatric v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHD were set to 26008905; 24367056 Phenotypes for gene: SDHD were set to Mitochondrial respiratory chain complex II deficiency, 252011 |
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Cardiomyopathy_Paediatric v0.0 | SDHAF1 |
Zornitza Stark gene: SDHAF1 was added gene: SDHAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 19465911; 26642834; 22995659 Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011 |
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Cardiomyopathy_Paediatric v0.0 | SDHA |
Zornitza Stark gene: SDHA was added gene: SDHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHA were set to 27604308 Phenotypes for gene: SDHA were set to Cardiomyopathy, dilated, 1GG; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Paragangliomas 5, 614165; Isolated complex II deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Cardiomyopathy, dilated, 1GG, 613642 |
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Cardiomyopathy_Paediatric v0.0 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 27604308 Phenotypes for gene: SCO2 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Myopia 6, 608908; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex IV Deficiency; syndromic HCM; Isolated complex IV deficiency; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 |
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Cardiomyopathy_Paediatric v0.0 | SCO1 |
Zornitza Stark gene: SCO1 was added gene: SCO1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | SCN5A |
Zornitza Stark gene: SCN5A was added gene: SCN5A was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN5A were set to doi:10. 1007/ s12265-016-9673-5; 24317018 Phenotypes for gene: SCN5A were set to Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Cardiomyopathy, dilated, 1E; Long QT syndrome |
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Cardiomyopathy_Paediatric v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/ Phenotypes for gene: RYR2 were set to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996 |
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Cardiomyopathy_Paediatric v0.0 | RIT1 |
Zornitza Stark gene: RIT1 was added gene: RIT1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 23791108; 24939608; 25124994 Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8; Noonan syndrome 8 615355 Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | RBM20 |
Zornitza Stark gene: RBM20 was added gene: RBM20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green 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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Cardiomyopathy_Paediatric v0.0 | RAF1 |
Zornitza Stark gene: RAF1 was added gene: RAF1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAF1 were set to 17603482; 17603483 Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan syndrome Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 16263833; 12634870; 18678287; 15384080; 15240615; 11704759; 17603483; 17497712; 12529711 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | PRKAG2 |
Zornitza Stark gene: PRKAG2 was added gene: PRKAG2 was added to Cardiomyopathy_Paediatric. Sources: London South GLHSouth West GLH,NHS GMS,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM |
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Cardiomyopathy_Paediatric v0.0 | PPP1R13L |
Zornitza Stark gene: PPP1R13L was added gene: PPP1R13L was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 25691752; 19016676; 28069640; 15661756; 28864777 Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death |
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Cardiomyopathy_Paediatric v0.0 | PPP1CB |
Zornitza Stark gene: PPP1CB was added gene: PPP1CB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673; 28211982; 27681385 Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506 |
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Cardiomyopathy_Paediatric v0.0 | PPCS |
Zornitza Stark gene: PPCS was added gene: PPCS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, 618189 |
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Cardiomyopathy_Paediatric v0.0 | PPA2 |
Zornitza Stark gene: PPA2 was added gene: PPA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPA2 were set to 27523598 Phenotypes for gene: PPA2 were set to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222 |
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Cardiomyopathy_Paediatric v0.0 | PNPLA2 |
Zornitza Stark gene: PNPLA2 was added gene: PNPLA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA2 were set to DCM; Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes; Neutral lipid storage disease with myopathy NLSDM |
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Cardiomyopathy_Paediatric v0.0 | PLN |
Zornitza Stark gene: PLN was added gene: PLN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLN were set to Cardiomyopathy, familial hypertrophic, 18,; Cardiomyopathy, dilated, 1P |
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Cardiomyopathy_Paediatric v0.0 | PKP2 |
Zornitza Stark gene: PKP2 was added gene: PKP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green 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; Arrhythmogenic right ventricular cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | PDLIM3 |
Zornitza Stark gene: PDLIM3 was added gene: PDLIM3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PDLIM3 were set to 25163546 |
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Cardiomyopathy_Paediatric v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia |
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Cardiomyopathy_Paediatric v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic acidemia; Propionicacidemia 606054; Propionic aciduria; Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; DCM; Propionic aciduria (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; Propionicacidemia |
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Cardiomyopathy_Paediatric v0.0 | NUBPL |
Zornitza Stark gene: NUBPL was added gene: NUBPL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, 618242 |
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Cardiomyopathy_Paediatric v0.0 | NRAS |
Zornitza Stark gene: NRAS was added gene: NRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to 19775298; 19966803 Phenotypes for gene: NRAS were set to Noonan syndrome 6 613224; CFC Syndrome; Cardio-Facio-cutanenous syndrome; syndromic HCM; Noonan syndrome 6; Noonan syndrome Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | NONO |
Zornitza Stark gene: NONO was added gene: NONO was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Cardiomyopathy_Paediatric v0.0 | NKX2-5 |
Zornitza Stark gene: NKX2-5 was added gene: NKX2-5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 |
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Cardiomyopathy_Paediatric v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,London South GLH,Expert Review Green Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 16380919; 19845691; 12707950 Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200; Neurofibromatosis Noonan syndrome; Neurofibromatosis syndrome 1; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis-Noonan Syndrome; Noonan syndrome |
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Cardiomyopathy_Paediatric v0.0 | NEXN |
Zornitza Stark gene: NEXN was added gene: NEXN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEXN were set to Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC |
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Cardiomyopathy_Paediatric v0.0 | NDUFV2 |
Zornitza Stark gene: NDUFV2 was added gene: NDUFV2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, 618229 |
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Cardiomyopathy_Paediatric v0.0 | NDUFV1 |
Zornitza Stark gene: NDUFV1 was added gene: NDUFV1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, nuclear type 4, 618225 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS8 |
Zornitza Stark gene: NDUFS8 was added gene: NDUFS8 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I deficiency, nuclear type 2, 618222 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS7 |
Zornitza Stark gene: NDUFS7 was added gene: NDUFS7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to Mitochondrial complex I deficiency, nuclear type 3, 618224 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS6 |
Zornitza Stark gene: NDUFS6 was added gene: NDUFS6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, nuclear type 9, 618232 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS4 |
Zornitza Stark gene: NDUFS4 was added gene: NDUFS4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency, nuclear type 1, 252010 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS3 |
Zornitza Stark gene: NDUFS3 was added gene: NDUFS3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8, 618230 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS2 |
Zornitza Stark gene: NDUFS2 was added gene: NDUFS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6, 618228 |
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Cardiomyopathy_Paediatric v0.0 | NDUFS1 |
Zornitza Stark gene: NDUFS1 was added gene: NDUFS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, 618226 |
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Cardiomyopathy_Paediatric v0.0 | NDUFB3 |
Zornitza Stark gene: NDUFB3 was added gene: NDUFB3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, 618246 |
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Cardiomyopathy_Paediatric v0.0 | NDUFB11 |
Zornitza Stark gene: NDUFB11 was added gene: NDUFB11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFB11 were set to Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF5 |
Zornitza Stark gene: NDUFAF5 was added gene: NDUFAF5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238 |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF4 |
Zornitza Stark gene: NDUFAF4 was added gene: NDUFAF4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237 |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF3 |
Zornitza Stark gene: NDUFAF3 was added gene: NDUFAF3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240 |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF2 |
Zornitza Stark gene: NDUFAF2 was added gene: NDUFAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233 |
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Cardiomyopathy_Paediatric v0.0 | NDUFAF1 |
Zornitza Stark gene: NDUFAF1 was added gene: NDUFAF1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA2 |
Zornitza Stark gene: NDUFA2 was added gene: NDUFA2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13, 618235 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA11 |
Zornitza Stark gene: NDUFA11 was added gene: NDUFA11 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA10 |
Zornitza Stark gene: NDUFA10 was added gene: NDUFA10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243 |
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Cardiomyopathy_Paediatric v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020 |
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Cardiomyopathy_Paediatric v0.0 | MYPN |
Zornitza Stark gene: MYPN was added gene: MYPN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: MYPN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated, 1KK; Cardiomypathy, familial hypertrophic, 22, |
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Cardiomyopathy_Paediatric v0.0 | MYL3 |
Zornitza Stark gene: MYL3 was added gene: MYL3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8, |
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Cardiomyopathy_Paediatric v0.0 | MYL2 |
Zornitza Stark gene: MYL2 was added gene: MYL2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green 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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Cardiomyopathy_Paediatric v0.0 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYH7 were set to Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,; Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S |
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Cardiomyopathy_Paediatric v0.0 | MYH6 |
Zornitza Stark gene: MYH6 was added gene: MYH6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH6 were set to Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE |
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Cardiomyopathy_Paediatric v0.0 | MYBPC3 |
Zornitza Stark gene: MYBPC3 was added gene: MYBPC3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic, 4,; Left ventricular noncompaction 10,; Cardiomyopathy, dilated, 1MM; Hypertrophic cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 27604308 Phenotypes for gene: MUT were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; Methylmalonic aciduria, mut(0) type 251000; DCM; Methylmalonyl-CoA mutase deficiency (Organic acidurias); Hypertrophic-hypocontractile cardiomyopathy; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. |
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Cardiomyopathy_Paediatric v0.0 | MRPL44 |
Zornitza Stark gene: MRPL44 was added gene: MRPL44 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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Cardiomyopathy_Paediatric v0.0 | MLYCD |
Zornitza Stark gene: MLYCD was added gene: MLYCD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLYCD were set to 27604308; 12955715; 7609455; 9177981 Phenotypes for gene: MLYCD were set to malonic aciduria; 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism); Malonic aciduria; Malonyl-CoA decarboxylase deficiency (Organic acidurias); Mild clinical features. Developmental delay, epilepsy; Malonyl-CoA decarboxylase deficiency; HCM; Hypertrophic-hypocontractile cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | MIB1 |
Zornitza Stark gene: MIB1 was added gene: MIB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIB1 were set to Left ventricular noncompaction 7 |
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Cardiomyopathy_Paediatric v0.0 | MAP2K2 |
Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K2 were set to 23379592; 21396583 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 4; syndromic HCM; CFC syndrome Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | MAP2K1 |
Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 23321623 (publication referring to Noonan syndrome association).; PMID: 21396583 Phenotypes for gene: MAP2K1 were set to ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; syndromic HCM; CFC syndrome; LEOPARD syndrome Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | LZTR1 |
Zornitza Stark gene: LZTR1 was added gene: LZTR1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert List,Expert Review Green Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 25795793; 29469822 Phenotypes for gene: LZTR1 were set to Schwannomatosis-2, susceptibility to 615670; Noonan syndrome 10 616564 |
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Cardiomyopathy_Paediatric v0.0 | LRPPRC |
Zornitza Stark gene: LRPPRC was added gene: LRPPRC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRPPRC were set to 12529507; 24399447; 22045337; 26510951 Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 |
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Cardiomyopathy_Paediatric v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to 15148145; 18551513; 15622532 Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A; Emery-Dreifuss muscular dystrophy 2, AD, 181350; Congenital Muscular Dystrophy, LMNA-related (Dominant); Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic |
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Cardiomyopathy_Paediatric v0.0 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 27604308 Phenotypes for gene: LAMP2 were set to Danon disease; syndromic HCM |
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Cardiomyopathy_Paediatric v0.0 | KRAS |
Zornitza Stark gene: KRAS was added gene: KRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRAS were set to PMID: 21396583 Phenotypes for gene: KRAS were set to Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 2 615278; Cardiofaciocutaneous syndrome 2; CFC syndrome; Noonan syndrome; Noonan syndrome 3 609942 Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | JUP |
Zornitza Stark gene: JUP was added gene: JUP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 |
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Cardiomyopathy_Paediatric v0.0 | JPH2 |
Zornitza Stark gene: JPH2 was added gene: JPH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 27604308 Phenotypes for gene: IDUA were set to Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1S; Hurler syndrome; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type I; Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis Is, 607016 |
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Cardiomyopathy_Paediatric v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 27604308 Phenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis Type II; Mucopolysaccharidosis II, 309900 |
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Cardiomyopathy_Paediatric v0.0 | IDH2 |
Zornitza Stark gene: IDH2 was added gene: IDH2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH2 were set to 24049096; 20847235 Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, 613657; Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2 |
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Cardiomyopathy_Paediatric v0.0 | HRAS |
Zornitza Stark gene: HRAS was added gene: HRAS was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583 Phenotypes for gene: HRAS were set to Costello syndrome; syndromic HCM Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | HCN4 |
Zornitza Stark gene: HCN4 was added gene: HCN4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHB were set to 27604308 Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) |
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Cardiomyopathy_Paediatric v0.0 | HADHA |
Zornitza Stark gene: HADHA was added gene: HADHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 27604308 Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) |
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Cardiomyopathy_Paediatric v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 27604308 Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; syndromic HCM; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII; MPS VII, Sly disease (MPS IV, Morquio disease) |
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Cardiomyopathy_Paediatric v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 27604308 Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis, Type IV; GM1-gangliosidosis, type III, 230650; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; syndromic HCM; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010 |
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Cardiomyopathy_Paediatric v0.0 | GAA |
Zornitza Stark gene: GAA was added gene: GAA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease) |
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Cardiomyopathy_Paediatric v0.0 | FLNC |
Zornitza Stark gene: FLNC was added gene: FLNC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKTN were set to 27604308 Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type; Dilated Cardiomyopathy, Recessive; Fukuyama Congenital Muscular Dystrophy; Fukuyama congenital muscular dystrophy; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Cardiomyopathy, dilated, 1X; Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) |
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Cardiomyopathy_Paediatric v0.0 | FHOD3 |
Zornitza Stark gene: FHOD3 was added gene: FHOD3 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy |
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Cardiomyopathy_Paediatric v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091 |
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Cardiomyopathy_Paediatric v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 27604308 Phenotypes for gene: FAH were set to HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I |
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Cardiomyopathy_Paediatric v0.0 | EPG5 |
Zornitza Stark gene: EPG5 was added gene: EPG5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23838600; 23674064; 26395118; 26917586; 23222957; 25331754; 28624465 Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
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Cardiomyopathy_Paediatric v0.0 | EMD |
Zornitza Stark gene: EMD was added gene: EMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 |
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Cardiomyopathy_Paediatric v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,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 Arrhythmogenic right ventricular dysplasia 8; Dilated cardiomyopathy with woolly hair and keratoderma |
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Cardiomyopathy_Paediatric v0.0 | DSG2 |
Zornitza Stark gene: DSG2 was added gene: DSG2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green 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 dysplasia 10; Cardiomyopathy, dilated, 1BB, |
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Cardiomyopathy_Paediatric v0.0 | DSC2 |
Zornitza Stark gene: DSC2 was added gene: DSC2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair |
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Cardiomyopathy_Paediatric v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004; 23890587 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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Cardiomyopathy_Paediatric v0.0 | DNAJC19 |
Zornitza Stark gene: DNAJC19 was added gene: DNAJC19 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 16055927; 22797137; 27928778; 27604308; 27426421 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V |
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Cardiomyopathy_Paediatric v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200; Cardiomyopathy, dilated, 3B; Dilated Cardiomyopathy, X-Linked; Becker muscular dystrophy, 300376 |
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Cardiomyopathy_Paediatric v0.0 | DES |
Zornitza Stark gene: DES was added gene: DES was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, |
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Cardiomyopathy_Paediatric v0.0 | CSRP3 |
Zornitza Stark gene: CSRP3 was added gene: CSRP3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSRP3 were set to Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12 |
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Cardiomyopathy_Paediatric v0.0 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 24816252; 27604308 Phenotypes for gene: CPT2 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649; HCM, mixed; DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) |
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Cardiomyopathy_Paediatric v0.0 | COX6B1 |
Zornitza Stark gene: COX6B1 was added gene: COX6B1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | COX20 |
Zornitza Stark gene: COX20 was added gene: COX20 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | COX15 |
Zornitza Stark gene: COX15 was added gene: COX15 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 |
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Cardiomyopathy_Paediatric v0.0 | COX14 |
Zornitza Stark gene: COX14 was added gene: COX14 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | COX10 |
Zornitza Stark gene: COX10 was added gene: COX10 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Mitochondrial complex IV deficiency, 220110 |
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Cardiomyopathy_Paediatric v0.0 | COA6 |
Zornitza Stark gene: COA6 was added gene: COA6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA6 were set to 25339201; 22277967; 25959673; 24549041 Phenotypes for gene: COA6 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 |
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Cardiomyopathy_Paediatric v0.0 | COA5 |
Zornitza Stark gene: COA5 was added gene: COA5 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA5 were set to 27604308 Phenotypes for gene: COA5 were set to Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
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Cardiomyopathy_Paediatric v0.0 | CDH2 |
Zornitza Stark gene: CDH2 was added gene: CDH2 was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBL were set to 19571318; 20543203; 20619386 Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | CACNA1C |
Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Cardiomyopathy_Paediatric v0.0 | BRAF |
Zornitza Stark gene: BRAF was added gene: BRAF was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 19206169; 21396583 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707 Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Cardiomyopathy_Paediatric v0.0 | BAG3 |
Zornitza Stark gene: BAG3 was added gene: BAG3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH |
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Cardiomyopathy_Paediatric v0.0 | ATPAF2 |
Zornitza Stark gene: ATPAF2 was added gene: ATPAF2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 |
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Cardiomyopathy_Paediatric v0.0 | ATP5D |
Zornitza Stark gene: ATP5D was added gene: ATP5D was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5D were set to 29478781 Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120 |
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Cardiomyopathy_Paediatric v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 27604308 Phenotypes for gene: ARSB were set to MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6 |
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Cardiomyopathy_Paediatric v0.0 | ALPK3 |
Zornitza Stark gene: ALPK3 was added gene: ALPK3 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, 618052 |
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Cardiomyopathy_Paediatric v0.0 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 15689433 Phenotypes for gene: ALMS1 were set to OMIM 203800 |
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Cardiomyopathy_Paediatric v0.0 | AGL |
Zornitza Stark gene: AGL was added gene: AGL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGL were set to 27604308; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp Phenotypes for gene: AGL were set to Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type III; Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases; HCM; Glycogen storage disease type IIIa (debrancher enzyme deficiency); myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance; syndromic HCM; Glycogen storage disease type III, Cori (Glycogen storage disorders); Hypertrophic-hypocontractile cardiomyopathy; Glycogen storage disease IIIa, 232400; Glycogen Storage Disease; Glycogen storage disease IIIb, 232400 |
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Cardiomyopathy_Paediatric v0.0 | AGK |
Zornitza Stark gene: AGK was added gene: AGK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to Sengers syndrome, 212350 |
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Cardiomyopathy_Paediatric v0.0 | ACTN2 |
Zornitza Stark gene: ACTN2 was added gene: ACTN2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN2 were set to Dilated Cardiomyopathy, Dominant |
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Cardiomyopathy_Paediatric v0.0 | ACTC1 |
Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R; Left ventricular noncompaction 4; Left Ventricular Noncompaction Cardiomyopathy; Hypertrophic Cardiomyopathy; Cardiomyopathy, familial hypertrophic, 11 |
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Cardiomyopathy_Paediatric v0.0 | ACTA1 |
Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA1 were set to doi:10. 1007/ s12265-016-9673-5; 16945537 Phenotypes for gene: ACTA1 were set to Hypertrophic cardiomyopathy; Nemaline myopathy 3, autosomal dominant or recessive 161800; Dilated cardiomyopathy; Myopathy, congenital, with fiber-type disproportion 1 255310; CMD with rigid spine |
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Cardiomyopathy_Paediatric v0.0 | ACADVL |
Zornitza Stark gene: ACADVL was added gene: ACADVL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 27604308; 24285112; 9973285; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp Phenotypes for gene: ACADVL were set to Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; syndromic HCM; VLCAD deficiency; HCM |
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Cardiomyopathy_Paediatric v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,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, 611126 |
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Cardiomyopathy_Paediatric v0.0 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC9 were set to 15034580 Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant |
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Cardiomyopathy_Paediatric v0.0 | AARS2 |
Zornitza Stark gene: AARS2 was added gene: AARS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; 21549344 Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) |
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Cardiomyopathy_Paediatric v0.0 | Zornitza Stark Added panel Cardiomyopathy_Paediatric | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3544 | FLCN | Zornitza Stark Marked gene: FLCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3544 | FLCN | Zornitza Stark Gene: flcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3544 | FLCN | Zornitza Stark Phenotypes for gene: FLCN were changed from to Birt-Hogg-Dube syndrome (MIM#135150); Pneumothorax, primary spontaneous (MIM#173600) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3543 | FLCN | Zornitza Stark Publications for gene: FLCN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3542 | FLCN | Zornitza Stark Mode of inheritance for gene: FLCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3541 | FLCN | Crystle Lee reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17124507, 30586397, 31625278; Phenotypes: Birt-Hogg-Dube syndrome (MIM#135150), Pneumothorax, primary spontaneous (MIM#173600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hair disorders v0.1 |
Bryony Thompson Panel status changed from internal to public Panel types changed to Royal Melbourne Hospital; Rare Disease |
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Hair disorders v0.0 | TRPS1 |
Bryony Thompson gene: TRPS1 was added gene: TRPS1 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPS1 were set to 31332722 Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type III, 190351; Trichorhinophalangeal syndrome, type I, 190350 |
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Hair disorders v0.0 | TP63 |
Bryony Thompson gene: TP63 was added gene: TP63 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TP63 were set to 31332722 Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome |
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Hair disorders v0.0 | GJB6 |
Bryony Thompson gene: GJB6 was added gene: GJB6 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJB6 were set to 31332722 Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500 |
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Hair disorders v0.0 | WNT10A |
Bryony Thompson gene: WNT10A was added gene: WNT10A was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WNT10A were set to 31332722 Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia |
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Hair disorders v0.0 | EDARADD |
Bryony Thompson gene: EDARADD was added gene: EDARADD was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: EDARADD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDARADD were set to 31332722 Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic; Ectodermal dysplasia, anhidrotic |
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Hair disorders v0.0 | EDAR |
Bryony Thompson gene: EDAR was added gene: EDAR was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: EDAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDAR were set to 31332722 Phenotypes for gene: EDAR were set to Ectodermal dysplasia, anhidrotic, Hair morphology |
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Hair disorders v0.0 | EDA |
Bryony Thompson gene: EDA was added gene: EDA was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: EDA were set to 31332722 Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective |
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Hair disorders v0.0 | TCHH |
Bryony Thompson gene: TCHH was added gene: TCHH was added to Hair disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: TCHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCHH were set to 31332722 Phenotypes for gene: TCHH were set to ?Uncombable hair syndrome 3, 617252 |
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Hair disorders v0.0 | TGM3 |
Bryony Thompson gene: TGM3 was added gene: TGM3 was added to Hair disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: TGM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TGM3 were set to 31332722 Phenotypes for gene: TGM3 were set to ?Uncombable hair syndrome 2, 617251 |
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Hair disorders v0.0 | PADI3 |
Bryony Thompson gene: PADI3 was added gene: PADI3 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PADI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PADI3 were set to 31332722 Phenotypes for gene: PADI3 were set to Uncombable hair syndrome, 191480 |
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Hair disorders v0.0 | JUP |
Bryony Thompson gene: JUP was added gene: JUP was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JUP were set to 31332722 Phenotypes for gene: JUP were set to Naxos disease, 601214 |
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Hair disorders v0.0 | DSP |
Bryony Thompson gene: DSP was added gene: DSP was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSP were set to 31332722 Phenotypes for gene: DSP were set to Skin fragility-woolly hair syndrome, 607655; Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 |
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Hair disorders v0.0 | KRT71 |
Bryony Thompson gene: KRT71 was added gene: KRT71 was added to Hair disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT71 were set to 31332722 Phenotypes for gene: KRT71 were set to ?Hypotrichosis 13, 615896 |
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Hair disorders v0.0 | TARS |
Bryony Thompson gene: TARS was added gene: TARS was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TARS were set to 31332722 Phenotypes for gene: TARS were set to Trichothiodystrophy 7, nonphotosensitive, 618546 |
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Hair disorders v0.0 | GTF2E2 |
Bryony Thompson gene: GTF2E2 was added gene: GTF2E2 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2E2 were set to 31332722 Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943 |
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Hair disorders v0.0 | ERCC3 |
Bryony Thompson gene: ERCC3 was added gene: ERCC3 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 31332722 Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, 616390 |
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Hair disorders v0.0 | RNF113A |
Bryony Thompson gene: RNF113A was added gene: RNF113A was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RNF113A were set to 31332722 Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, 300953 |
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Hair disorders v0.0 | GTF2H5 |
Bryony Thompson gene: GTF2H5 was added gene: GTF2H5 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF2H5 were set to 31332722 Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 |
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Hair disorders v0.0 | MPLKIP |
Bryony Thompson gene: MPLKIP was added gene: MPLKIP was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPLKIP were set to 31332722 Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 |
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Hair disorders v0.0 | ERCC2 |
Bryony Thompson gene: ERCC2 was added gene: ERCC2 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 31332722 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive, 601675 |
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Hair disorders v0.0 | ATP7A |
Bryony Thompson gene: ATP7A was added gene: ATP7A was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 31332722 Phenotypes for gene: ATP7A were set to Menkes disease, 309400 |
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Hair disorders v0.0 | BCS1L |
Bryony Thompson gene: BCS1L was added gene: BCS1L was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCS1L were set to 31332722 Phenotypes for gene: BCS1L were set to Bjornstad syndrome, 262000 |
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Hair disorders v0.0 | KRT83 |
Bryony Thompson gene: KRT83 was added gene: KRT83 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT83 were set to 31332722 Phenotypes for gene: KRT83 were set to Monilethrix, 158000 |
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Hair disorders v0.0 | KRT86 |
Bryony Thompson gene: KRT86 was added gene: KRT86 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT86 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT86 were set to 31332722 Phenotypes for gene: KRT86 were set to Monilethrix, 158000 |
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Hair disorders v0.0 | KRT81 |
Bryony Thompson gene: KRT81 was added gene: KRT81 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT81 were set to 31332722 Phenotypes for gene: KRT81 were set to Monilethrix, 158000 |
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Hair disorders v0.0 | SPINK5 |
Bryony Thompson gene: SPINK5 was added gene: SPINK5 was added to Hair disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 31332722 Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 |
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Hair disorders v0.0 | ASL |
Bryony Thompson gene: ASL was added gene: ASL was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 31332722 Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 |
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Hair disorders v0.0 | CDH3 |
Bryony Thompson gene: CDH3 was added gene: CDH3 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDH3 were set to 31332722 Phenotypes for gene: CDH3 were set to Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 |
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Hair disorders v0.0 | LPAR6 |
Bryony Thompson gene: LPAR6 was added gene: LPAR6 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPAR6 were set to Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; Hypotrichosis 8, 278150 |
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Hair disorders v0.0 | LIPH |
Bryony Thompson gene: LIPH was added gene: LIPH was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPH were set to 31332722 Phenotypes for gene: LIPH were set to Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379; Hypotrichosis 7, 604379 |
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Hair disorders v0.0 | KRT74 |
Bryony Thompson gene: KRT74 was added gene: KRT74 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT74 were set to Hypotrichosis 3, 613981 |
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Hair disorders v0.0 | HR |
Bryony Thompson gene: HR was added gene: HR was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HR were set to 31332722 Phenotypes for gene: HR were set to Atrichia with papular lesions, 209500; Hypotrichosis 4, 146550 |
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Hair disorders v0.0 | DSG4 |
Bryony Thompson gene: DSG4 was added gene: DSG4 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSG4 were set to Hypotrichosis 6, 607903 |
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Hair disorders v0.0 | CDSN |
Bryony Thompson gene: CDSN was added gene: CDSN was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDSN were set to 31332722 Phenotypes for gene: CDSN were set to Hypotrichosis 2, 146520 |
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Hair disorders v0.0 | APCDD1 |
Bryony Thompson gene: APCDD1 was added gene: APCDD1 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APCDD1 were set to Hypotrichosis 1, 605389 |
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Hair disorders v0.0 | Bryony Thompson Added panel Hair disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.8 | LARS | Zornitza Stark Marked gene: LARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.8 | LARS | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name LARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.8 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.8 | LARS | Zornitza Stark Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1 to Infantile liver failure syndrome 1, MIM# 615438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3541 | LARS | Zornitza Stark Publications for gene: LARS were set to 28774368; 30349989; 22607940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3540 | LARS | Zornitza Stark edited their review of gene: LARS: Changed publications: 28774368, 30349989, 22607940, 32699352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.7 | LARS | Zornitza Stark Tag new gene name tag was added to gene: LARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3540 | LARS | Zornitza Stark Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3539 | LARS | Zornitza Stark Marked gene: LARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3539 | LARS |
Zornitza Stark Added comment: Comment when marking as ready: Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families. Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation. In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities. These patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few). The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs). Please note that the HGNC approved symbol for this gene is LARS1. |
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Mendeliome v0.3539 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3539 | LARS | Zornitza Stark Tag new gene name tag was added to gene: LARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.30 | LARS | Zornitza Stark Marked gene: LARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.30 | LARS | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is LARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.30 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cholestasis v0.30 | LARS | Zornitza Stark Tag new gene name tag was added to gene: LARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2792 | LARS | Zornitza Stark Tag new gene name tag was added to gene: LARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2792 | LARS | Zornitza Stark Marked gene: LARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2792 | LARS | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name LARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2792 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2792 | LARS | Zornitza Stark Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2791 | LARS | Zornitza Stark Classified gene: LARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2791 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.762 | LARS | Zornitza Stark Marked gene: LARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.762 | LARS | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is LARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.762 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.762 | LARS | Zornitza Stark Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.761 | LARS | Zornitza Stark Tag new gene name tag was added to gene: LARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.761 | LARS | Zornitza Stark Classified gene: LARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.761 | LARS | Zornitza Stark Gene: lars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.32 | KRT12 | Zornitza Stark Marked gene: KRT12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.32 | KRT12 | Zornitza Stark Gene: krt12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.32 | KRT12 | Zornitza Stark Phenotypes for gene: KRT12 were changed from to Meesmann corneal dystrophy 1, MIM# 122100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.31 | KRT12 | Zornitza Stark Publications for gene: KRT12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.30 | KRT12 | Zornitza Stark Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2790 | LARS |
Konstantinos Varvagiannis gene: LARS was added gene: LARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS were set to 32699352 Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438 Penetrance for gene: LARS were set to Complete Review for gene: LARS was set to GREEN Added comment: Please consider inclusion with amber/green rating in the current panel. Biallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438. Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families. Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation. In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities. These patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few). The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs). Please note that the HGNC approved symbol for this gene is LARS1. Sources: Literature |
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Genetic Epilepsy v0.760 | LARS |
Konstantinos Varvagiannis gene: LARS was added gene: LARS was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARS were set to 32699352 Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438 Penetrance for gene: LARS were set to Complete Review for gene: LARS was set to GREEN Added comment: Please consider inclusion with amber/green rating in the current panel. Biallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438. Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families. Seizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation. In addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities. These patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few). The gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs). Please note that the HGNC approved symbol for this gene is LARS1. Sources: Literature |
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Corneal Dystrophy v0.28 | VSX1 | Zornitza Stark Marked gene: VSX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.28 | VSX1 | Zornitza Stark Gene: vsx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.28 | VSX1 | Zornitza Stark Phenotypes for gene: VSX1 were changed from to Keratoconus 1, MIM# 148300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.27 | VSX1 | Zornitza Stark Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.26 | VSX1 | Zornitza Stark reviewed gene: VSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.26 | STS | Zornitza Stark Marked gene: STS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.26 | STS | Zornitza Stark Gene: sts has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.26 | STS | Zornitza Stark Classified gene: STS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.26 | STS | Zornitza Stark Gene: sts has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.25 | STS |
Zornitza Stark gene: STS was added gene: STS was added to Corneal Dystrophy. Sources: Expert list 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, MIM# 308100 Review for gene: STS was set to GREEN Added comment: Corneal opacities are part of the phenotype. Sources: Expert list |
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Corneal Dystrophy v0.24 | PITX2 | Zornitza Stark Marked gene: PITX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.24 | PITX2 | Zornitza Stark Gene: pitx2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.24 | PITX2 | Zornitza Stark Phenotypes for gene: PITX2 were changed from to Anterior segment dysgenesis 4, MIM# 137600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.23 | PITX2 | Zornitza Stark Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.22 | PITX2 | Zornitza Stark Classified gene: PITX2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.22 | PITX2 | Zornitza Stark Gene: pitx2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.21 | PITX2 | Zornitza Stark reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.21 | MAF | Zornitza Stark Marked gene: MAF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.21 | MAF | Zornitza Stark Gene: maf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.21 | MAF | Zornitza Stark Phenotypes for gene: MAF were changed from to Cataract 21, multiple types, MIM# 610202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.20 | MAF | Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.19 | MAF | Zornitza Stark Classified gene: MAF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.19 | MAF | Zornitza Stark Gene: maf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.19 | MAF | Zornitza Stark Classified gene: MAF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.19 | MAF | Zornitza Stark Gene: maf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.18 | MAF | Zornitza Stark reviewed gene: MAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 21, multiple types, MIM# 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.18 | LCAT | Zornitza Stark Marked gene: LCAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.18 | LCAT | Zornitza Stark Gene: lcat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.18 | LCAT | Zornitza Stark Classified gene: LCAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.18 | LCAT | Zornitza Stark Gene: lcat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.17 | LCAT |
Zornitza Stark gene: LCAT was added gene: LCAT was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900 Review for gene: LCAT was set to GREEN Added comment: Corneal opacities are part of the phenotype. Sources: Expert list |
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Mendeliome v0.3539 | KERA | Zornitza Stark Marked gene: KERA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3539 | KERA | Zornitza Stark Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3539 | KERA | Zornitza Stark Phenotypes for gene: KERA were changed from to Cornea plana 2, autosomal recessive, MIM# 217300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3538 | KERA | Zornitza Stark Publications for gene: KERA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3537 | KERA | Zornitza Stark Mode of inheritance for gene: KERA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3536 | KERA | Zornitza Stark reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23834557, 11726611, 10802664; Phenotypes: Cornea plana 2, autosomal recessive, MIM# 217300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.16 | KERA | Zornitza Stark Marked gene: KERA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.16 | KERA | Zornitza Stark Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.16 | KERA | Zornitza Stark Classified gene: KERA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.16 | KERA | Zornitza Stark Gene: kera has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.15 | KERA |
Zornitza Stark gene: KERA was added gene: KERA was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KERA were set to 23834557; 11726611; 10802664 Phenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM# 217300 Review for gene: KERA was set to GREEN Added comment: Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations. Sources: Expert list |
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Corneal Dystrophy v0.14 | KRT12 | Zornitza Stark reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 22174841; Phenotypes: Meesmann corneal dystrophy 1, MIM# 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Marked gene: GRHL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Classified gene: GRHL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.14 | GRHL2 | Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.13 | GRHL2 | Zornitza Stark Tag deep intronic tag was added to gene: GRHL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.13 | GRHL2 |
Zornitza Stark gene: GRHL2 was added gene: GRHL2 was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRHL2 were set to 29499165 Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Review for gene: GRHL2 was set to GREEN Added comment: PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT Sources: Expert list |
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Corneal Dystrophy v0.12 | GSN | Zornitza Stark Marked gene: GSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.12 | GSN | Zornitza Stark Gene: gsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.12 | GSN | Zornitza Stark Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type, MIM# 105120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.11 | GSN | Zornitza Stark Publications for gene: GSN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.10 | GSN | Zornitza Stark Mode of inheritance for gene: GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.9 | GSN | Zornitza Stark reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 2176164; Phenotypes: Amyloidosis, Finnish type, MIM# 105120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.9 | FOXE3 | Zornitza Stark Marked gene: FOXE3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.9 | FOXE3 | Zornitza Stark Gene: foxe3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.9 | FOXE3 | Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.8 | FOXE3 | Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.7 | FOXE3 | Zornitza Stark Classified gene: FOXE3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.7 | FOXE3 | Zornitza Stark Gene: foxe3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.6 | FOXE3 | Zornitza Stark reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.6 | CYP4V2 | Zornitza Stark Marked gene: CYP4V2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.6 | CYP4V2 | Zornitza Stark Gene: cyp4v2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.6 | CYP4V2 | Zornitza Stark Phenotypes for gene: CYP4V2 were changed from to Bietti crystalline corneoretinal dystrophy, MIM# 210370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.5 | CYP4V2 | Zornitza Stark Publications for gene: CYP4V2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.4 | CYP4V2 | Zornitza Stark Mode of inheritance for gene: CYP4V2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.3 | CYP4V2 | Zornitza Stark reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042513; Phenotypes: Bietti crystalline corneoretinal dystrophy, MIM# 210370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dystonia_Superpanel v0.78 | Bryony Thompson Changed child panels to: Dystonia - complex; Paroxysmal Dyskinesia; Dystonia - isolated/combined | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Marked gene: RASA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Added comment: Comment when marking as ready: Similarly to EPHB4, phenotypic overlap with HHT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Haemorrhagic Telangiectasia v0.9 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.25 | SPINK1 | Zornitza Stark Marked gene: SPINK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.25 | SPINK1 | Zornitza Stark Gene: spink1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.25 | SPINK1 | Zornitza Stark Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.24 | SPINK1 | Zornitza Stark Publications for gene: SPINK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.23 | SPINK1 | Zornitza Stark Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.22 | SPINK1 | Zornitza Stark reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.22 | PRSS1 | Zornitza Stark Marked gene: PRSS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.22 | PRSS1 | Zornitza Stark Gene: prss1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.22 | PRSS1 | Zornitza Stark Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.21 | PRSS1 | Zornitza Stark Publications for gene: PRSS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.20 | PRSS1 | Zornitza Stark Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.19 | PRSS1 | Zornitza Stark reviewed gene: PRSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841182, 10204851, 10529393, 11097832, 11702203, 15776435, 16791840, 18461367, 17072318; Phenotypes: Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.19 | CFTR | Zornitza Stark Marked gene: CFTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.19 | CFTR | Zornitza Stark Gene: cftr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.19 | CFTR | Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.18 | CFTR | Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.17 | CFTR | Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3536 | CTRC | Zornitza Stark Marked gene: CTRC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3536 | CTRC | Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3536 | CTRC | Zornitza Stark Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to}, MIM#167800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3535 | CTRC | Zornitza Stark Publications for gene: CTRC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3534 | CTRC | Zornitza Stark Mode of inheritance for gene: CTRC was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3533 | CTRC | Zornitza Stark Classified gene: CTRC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3533 | CTRC | Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3532 | CTRC | Zornitza Stark reviewed gene: CTRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 18059268, 18172691, 28502372; Phenotypes: {Pancreatitis, chronic, susceptibility to}, MIM#167800; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.17 | CTRC | Zornitza Stark Marked gene: CTRC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.17 | CTRC | Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.17 | CTRC | Zornitza Stark Phenotypes for gene: CTRC were changed from to {Pancreatitis, chronic, susceptibility to}, MIM#167800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.16 | CTRC | Zornitza Stark Publications for gene: CTRC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.15 | CTRC | Zornitza Stark Mode of inheritance for gene: CTRC was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.14 | CTRC | Zornitza Stark Classified gene: CTRC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.14 | CTRC | Zornitza Stark Gene: ctrc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.13 | CTRC | Zornitza Stark reviewed gene: CTRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 18059268, 18172691, 28502372; Phenotypes: {Pancreatitis, chronic, susceptibility to}, MIM#167800; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3532 | CPA1 | Zornitza Stark Marked gene: CPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3532 | CPA1 | Zornitza Stark Gene: cpa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3532 | CPA1 | Zornitza Stark Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3531 | CPA1 | Zornitza Stark Publications for gene: CPA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3530 | CPA1 | Zornitza Stark Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3529 | CPA1 | Zornitza Stark reviewed gene: CPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23955596, 28497564, 28258133, 31005883; Phenotypes: Susceptibility to chronic pancreatitis, Hereditary pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.13 | CPA1 | Zornitza Stark Marked gene: CPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.13 | CPA1 | Zornitza Stark Gene: cpa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.13 | CPA1 | Zornitza Stark Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.12 | CPA1 | Zornitza Stark Publications for gene: CPA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.11 | CPA1 | Zornitza Stark Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.10 | CPA1 | Zornitza Stark reviewed gene: CPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23955596, 28497564, 28258133, 31005883; Phenotypes: Susceptibility to chronic pancreatitis, Hereditary pancreatitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3529 | CLDN2 | Zornitza Stark Marked gene: CLDN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3529 | CLDN2 | Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3529 | CLDN2 | Zornitza Stark Phenotypes for gene: CLDN2 were changed from to Susceptibility to pancreatitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3528 | CLDN2 | Zornitza Stark Publications for gene: CLDN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3527 | CLDN2 | Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3526 | CLDN2 | Zornitza Stark Classified gene: CLDN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3526 | CLDN2 | Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3525 | CLDN2 | Zornitza Stark reviewed gene: CLDN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29884332, 31163246; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.10 | CLDN2 | Zornitza Stark Marked gene: CLDN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.10 | CLDN2 | Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.10 | CLDN2 | Zornitza Stark Phenotypes for gene: CLDN2 were changed from to Susceptibility to pancreatitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.9 | CLDN2 | Zornitza Stark Publications for gene: CLDN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.8 | CLDN2 | Zornitza Stark Mode of inheritance for gene: CLDN2 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.7 | CLDN2 | Zornitza Stark Classified gene: CLDN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.7 | CLDN2 | Zornitza Stark Gene: cldn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.6 | CLDN2 | Zornitza Stark reviewed gene: CLDN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29884332, 31163246; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.6 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.5 | CASR | Zornitza Stark Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.5 | CASR | Zornitza Stark Gene: casr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.5 | CASR | Zornitza Stark Phenotypes for gene: CASR were changed from to Susceptibility to pancreatitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.4 | CASR | Zornitza Stark Publications for gene: CASR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.3 | CASR | Zornitza Stark Mode of inheritance for gene: CASR was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.2 | CASR | Zornitza Stark Classified gene: CASR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.2 | CASR | Zornitza Stark Gene: casr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pancreatitis v0.1 | CASR | Zornitza Stark reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: None; Publications: 16497624, 26166472; Phenotypes: Susceptibility to pancreatitis; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ABCC8 | Zornitza Stark Marked gene: ABCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ABCC8 | Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ACVRL1 | Zornitza Stark Marked gene: ACVRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ACVRL1 | Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | BMPR2 | Zornitza Stark Marked gene: BMPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | BMPR2 | Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ENG | Zornitza Stark Marked gene: ENG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ENG | Zornitza Stark Gene: eng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.55 | ENG | Zornitza Stark Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Pulmonary arterial hypertension | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.54 | ENG | Zornitza Stark Publications for gene: ENG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.53 | GDF2 | Zornitza Stark Marked gene: GDF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.53 | GDF2 | Zornitza Stark Gene: gdf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.53 | GDF2 | Zornitza Stark Phenotypes for gene: GDF2 were changed from Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506 to Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506; Pulmonary arterial hypertension | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.52 | GDF2 | Zornitza Stark Publications for gene: GDF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | KCNK3 | Zornitza Stark Marked gene: KCNK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | KCNK3 | Zornitza Stark Gene: kcnk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | SMAD9 | Zornitza Stark Marked gene: SMAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | SMAD9 | Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | SOX17 | Zornitza Stark Marked gene: SOX17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | SOX17 | Zornitza Stark Gene: sox17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.51 | SOX17 | Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674 to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.50 | SOX17 | Zornitza Stark Publications for gene: SOX17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | TBX4 | Zornitza Stark Marked gene: TBX4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | TBX4 | Zornitza Stark Gene: tbx4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3525 | BMP10 | Zornitza Stark Marked gene: BMP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3525 | BMP10 | Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3525 | BMP10 | Zornitza Stark Classified gene: BMP10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3525 | BMP10 | Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3524 | BMP10 |
Zornitza Stark gene: BMP10 was added gene: BMP10 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP10 were set to 30578383 Phenotypes for gene: BMP10 were set to Pulmonary arterial hypertension Review for gene: BMP10 was set to AMBER Added comment: A truncating mutation and a predicted loss-of-function missense variant were identified in BMP10 in two severely affected sporadic PAH female patients. Sources: Expert list |
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Pulmonary Arterial Hypertension v0.49 | BMP10 | Zornitza Stark Marked gene: BMP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | BMP10 | Zornitza Stark Gene: bmp10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | G6PD | Zornitza Stark Marked gene: G6PD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | G6PD | Zornitza Stark Added comment: Comment when marking as ready: Multiple reports of variants in G6PD reported in individuals with PAH, mechanism unclear. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | G6PD | Zornitza Stark Gene: g6pd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | NOTCH3 | Zornitza Stark Marked gene: NOTCH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | NOTCH3 | Zornitza Stark Gene: notch3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3523 | SMAD1 | Zornitza Stark Marked gene: SMAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3523 | SMAD1 | Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3523 | SMAD1 | Zornitza Stark Classified gene: SMAD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3523 | SMAD1 | Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3522 | SMAD1 |
Zornitza Stark gene: SMAD1 was added gene: SMAD1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD1 were set to 21898662; 23478097 Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension Review for gene: SMAD1 was set to AMBER Added comment: One missense variant identified in a PAH case. Mouse model is consistent with pulmonary hypertension. Sources: Expert list |
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Pulmonary Arterial Hypertension v0.49 | SMAD1 | Zornitza Stark Marked gene: SMAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | SMAD1 | Zornitza Stark Gene: smad1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | SMAD4 | Zornitza Stark Marked gene: SMAD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | SMAD4 | Zornitza Stark Gene: smad4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | BMPR1B | Zornitza Stark Marked gene: BMPR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | BMPR1B | Zornitza Stark Gene: bmpr1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.49 | BMPR1B | Zornitza Stark Publications for gene: BMPR1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.48 | BMPR1B | Zornitza Stark Mode of pathogenicity for gene: BMPR1B was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.47 | BMPR1B | Zornitza Stark Mode of inheritance for gene: BMPR1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3521 | BRAP | Zornitza Stark Marked gene: BRAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3521 | BRAP | Zornitza Stark Gene: brap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3521 | BRAP |
Zornitza Stark gene: BRAP was added gene: BRAP was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAP were set to 30703135 Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension Review for gene: BRAP was set to RED Added comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function. Sources: Expert list |
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Pulmonary Arterial Hypertension v0.46 | BRAP | Zornitza Stark Marked gene: BRAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.46 | BRAP | Zornitza Stark Gene: brap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.46 | KDR | Zornitza Stark Marked gene: KDR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.46 | KDR | Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.46 | KDR | Zornitza Stark Classified gene: KDR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.46 | KDR | Zornitza Stark Gene: kdr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3520 | KLF2 | Zornitza Stark Marked gene: KLF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3520 | KLF2 | Zornitza Stark Gene: klf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3520 | KLF2 |
Zornitza Stark gene: KLF2 was added gene: KLF2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: KLF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLF2 were set to 28188237 Phenotypes for gene: KLF2 were set to Pulmonary arterial hypertension Review for gene: KLF2 was set to RED Added comment: Single family reported. Sources: Expert list |
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Pulmonary Arterial Hypertension v0.45 | KLF2 | Zornitza Stark Marked gene: KLF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | KLF2 | Zornitza Stark Gene: klf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | EIF2AK4 | Zornitza Stark Marked gene: EIF2AK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | EIF2AK4 | Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | CAV1 | Zornitza Stark Marked gene: CAV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | CAV1 | Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | AQP1 | Zornitza Stark Marked gene: AQP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | AQP1 | Zornitza Stark Gene: aqp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.45 | AQP1 | Zornitza Stark Publications for gene: AQP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3519 | ATP13A3 | Zornitza Stark Marked gene: ATP13A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3519 | ATP13A3 | Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3519 | ATP13A3 | Zornitza Stark Classified gene: ATP13A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3519 | ATP13A3 | Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3518 | ATP13A3 |
Zornitza Stark gene: ATP13A3 was added gene: ATP13A3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ATP13A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP13A3 were set to 31798832; 30679663; 29650961 Phenotypes for gene: ATP13A3 were set to Pulmonary arterial hypertension Review for gene: ATP13A3 was set to GREEN Added comment: Three heterozygous frameshift variants, three stop gained, two splice region variants in ATP13A3, which are predicted to lead to loss of ATPase catalytic activity identified in idiopathic/familial PAH cases. Also one case with putative recessive inheritance reported. ATP13A3 mRNA expression is confirmed in primary PASMCs and endothelial cells where its loss hindered proliferation and enhanced apoptosis of endothelial cells, which is known as the initiation event of PAH. Sources: Expert list |
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Pulmonary Arterial Hypertension v0.44 | ATP13A3 | Zornitza Stark Marked gene: ATP13A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.44 | ATP13A3 | Zornitza Stark Gene: atp13a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.44 | ATP13A3 | Zornitza Stark Phenotypes for gene: ATP13A3 were changed from to Pulmonary arterial hypertension | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.43 | ATP13A3 | Zornitza Stark Publications for gene: ATP13A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Arterial Hypertension v0.42 | ATP13A3 | Zornitza Stark Mode of inheritance for gene: ATP13A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.38 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.37 | MBTPS2 | Zornitza Stark Marked gene: MBTPS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.37 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.37 | MBTPS2 | Zornitza Stark Classified gene: MBTPS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.37 | MBTPS2 | Zornitza Stark Gene: mbtps2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.36 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MBTPS2 were set to 27380894 Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, MIM# 301014 Review for gene: MBTPS2 was set to AMBER Added comment: Two unrelated families reported with multiple male affected individuals. Sources: Expert list |
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Osteogenesis Imperfecta and Osteoporosis v0.35 | FAM46A | Zornitza Stark Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII, MIM# 617952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.34 | FAM46A | Zornitza Stark Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | FAM46A | Zornitza Stark Marked gene: FAM46A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | FAM46A | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: TENT5A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | FAM46A | Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | FAM46A | Zornitza Stark Tag new gene name tag was added to gene: FAM46A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | GORAB | Zornitza Stark Marked gene: GORAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | GORAB | Zornitza Stark Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | GORAB | Zornitza Stark Classified gene: GORAB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.33 | GORAB | Zornitza Stark Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.32 | GORAB |
Zornitza Stark gene: GORAB was added gene: GORAB was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070 Review for gene: GORAB was set to GREEN Added comment: Osteopaenia and recurrent fractures are a feature of this condition. Sources: Expert list |
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Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Classified gene: CASR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.31 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.30 | CASR |
Zornitza Stark gene: CASR was added gene: CASR was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CASR were set to 22620673 Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, MIM# 239200; severe hypercalcemia, bone demineralization, multiple fractures Review for gene: CASR was set to GREEN Added comment: Severe neonatal presentations can be with multiple fractures. Sources: Expert list |
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Osteogenesis Imperfecta and Osteoporosis v0.29 | B4GALT7 | Zornitza Stark Marked gene: B4GALT7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.29 | B4GALT7 | Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.29 | B4GALT7 | Zornitza Stark Classified gene: B4GALT7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.29 | B4GALT7 | Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.28 | B4GALT7 |
Zornitza Stark gene: B4GALT7 was added gene: B4GALT7 was added to Osteogenesis Imperfecta. Sources: Expert list Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 26940150 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Review for gene: B4GALT7 was set to GREEN Added comment: Osteopaenia is a key feature of this connective tissue disorder. Sources: Expert list |
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Osteogenesis Imperfecta and Osteoporosis v0.27 | NBAS | Zornitza Stark Marked gene: NBAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.27 | NBAS | Zornitza Stark Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteogenesis Imperfecta and Osteoporosis v0.27 | NBAS | Zornitza Stark Phenotypes for gene: NBAS were changed from short stature; bone fragility; developmental delay; immunodeficiency; autism to short stature; bone fragility; developmental delay; immunodeficiency; autism; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3517 | SMARCA2 | Zornitza Stark Marked gene: SMARCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3517 | SMARCA2 | Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3517 | SMARCA2 | Zornitza Stark Phenotypes for gene: SMARCA2 were changed from to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3516 | SMARCA2 | Zornitza Stark Publications for gene: SMARCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3515 | SMARCA2 | Zornitza Stark Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3514 | SMARCA2 | Zornitza Stark Mode of inheritance for gene: SMARCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3513 | SMARCA2 | Zornitza Stark reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 26468571, 32694869; Phenotypes: Nicolaides-Baraitser syndrome, MIM #601358, Blepharophimosis-intellectual disability syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2790 | SMARCA2 | Zornitza Stark Marked gene: SMARCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2790 | SMARCA2 | Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2790 | SMARCA2 | Zornitza Stark Phenotypes for gene: SMARCA2 were changed from to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2789 | SMARCA2 | Zornitza Stark Publications for gene: SMARCA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2788 | SMARCA2 | Zornitza Stark Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2787 | SMARCA2 | Zornitza Stark Mode of inheritance for gene: SMARCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Blepharophimosis v0.15 | SMARCA2 | Zornitza Stark Marked gene: SMARCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Blepharophimosis v0.15 | SMARCA2 | Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Blepharophimosis v0.15 | SMARCA2 | Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Blepharophimosis v0.15 | SMARCA2 | Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3513 | MORC2 | Zornitza Stark Marked gene: MORC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3513 | MORC2 | Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3513 | MORC2 | Zornitza Stark Phenotypes for gene: MORC2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3512 | MORC2 | Zornitza Stark Publications for gene: MORC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3511 | MORC2 | Zornitza Stark Mode of inheritance for gene: MORC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3510 | MORC2 | Zornitza Stark reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32693025, 26497905, 26659848; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2786 | MORC2 | Zornitza Stark reviewed gene: MORC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32693025; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2786 | MORC2 | Zornitza Stark Marked gene: MORC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2786 | MORC2 | Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2786 | MORC2 | Zornitza Stark Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688 to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2785 | MORC2 | Zornitza Stark Publications for gene: MORC2 were set to https://doi.org/10.1016/j.ajhg.2020.06.013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2784 | MORC2 | Zornitza Stark Classified gene: MORC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2784 | MORC2 | Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2783 | SMARCA2 | Konstantinos Varvagiannis reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 26468571, 32694869; Phenotypes: Nicolaides-Baraitser syndrome, MIM #601358, Blepharophimosis-intellectual disability syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Blepharophimosis v0.14 | SMARCA2 |
Konstantinos Varvagiannis gene: SMARCA2 was added gene: SMARCA2 was added to Blepharophimosis. Sources: Literature Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA2 were set to 32694869 Phenotypes for gene: SMARCA2 were set to Blepharophimosis-intellectual disability syndrome (BIS) Penetrance for gene: SMARCA2 were set to Complete Mode of pathogenicity for gene: SMARCA2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SMARCA2 was set to GREEN Added comment: Cappuccio et al (2020 - PMID: 32694869) report on individuals with de novo SMARCA2 variants with features of a novel, blepharophimosis-intellectual disability syndrome (BIS) but whose clinical presentation did not fit a diagnosis of Nicolaides-Baraitser (NB) syndrome. Clinical details on 14 subjects with BIS were provided, DD/ID being a universal feature (14/14 - moderate to severe ID). Compared to other syndromes with blepharophimosis, lack of ptosis (observed in only 14% in this cohort), epicanthus inversus and limb abnormalities were proposed to distinguish BIS from other recognizable syndromes with blepharophimosis. All individuals with BIS were found to harbor de novo missense variants. These clustered outside the helicase domain and localized within exons 8,9 and 19. Few (6) additional individuals with de novo missense variants (in ex. 8, 14, 19) did not fit either diagnosis (NB or BIS) with the SNVs classified as VUS. According to Cappuccio et al, most individuals with diagnosis of NB syndrome harbor variants spanning exons 15 to 25 [corresponding to the ATPase domain, which in turn is split in a Helicase ATP-Binding domain (720-912) and a helicase C-terminal domain (1080-1164)]. Most NB-associated variants are missense and rarely in-frame exon deletions. As also commented on CNVs (deletions or duplications) encompassing SMARCA2 have been reported in individuals with DD/ID although these did not fit a diagnosis of NB syndrome (and CNVs were rather not intragenic/limited to SMARCA2) [cited PMIDs: 31530938, 28846756]. Transcriptomic and methylation signatures confirmed molecular stratification of affected individuals with SMARCA2-related disorders (and controls). Sources: Literature |
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Intellectual disability syndromic and non-syndromic v0.2783 | MORC2 |
Konstantinos Varvagiannis gene: MORC2 was added gene: MORC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to https://doi.org/10.1016/j.ajhg.2020.06.013 Phenotypes for gene: MORC2 were set to Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688 Penetrance for gene: MORC2 were set to unknown Mode of pathogenicity for gene: MORC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MORC2 was set to GREEN Added comment: The current review is based on a recent report by Sacoto et al (2020 - https://doi.org/10.1016/j.ajhg.2020.06.013). While several previous studies focused on the phenotype of axonal motor and senory neuropathy in individuals with heterozygous MORC2 pathogenic variants (Charcot-Marie-Tooth disease, axonal, type 2Z, MIM #616688) some of them presented among others with hypotonia, muscle weakness, intellectual disability, microcephaly or hearing loss [refs provided by Sacoto et al - learning disabilities (in some patients) also listed in OMIM's clinical synopsis]. Sacoto et al present a cohort of 20 individuals having genetic testing for developmental delay or growth failure (with a single one for a diagnosis of sensorimotor neuropathy). Overlapping features included DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. The authors comment that features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5). Affected subjects were found to harbor in all cases missense variants in the ATPase module of MORC2 [residues 1 to 494 - NM_001303256.1 - the module consists of an ATPase domain (aa 1-265), a transducer S5-like domain (266-494) and a coiled-coiled domain (CC1 - aa 282-361)]. Variants had occured mostly as de novo events although inheritance from a similarly affected parent was also reported. Some of them were recurring within this cohort and/or the literature eg. c.79G>A/p.Glu27Lys (x5), c.260C>T/p.Ser87Leu (x2), c.394C>T/p.Arg132Cys (4x), c.1164C>G/p.Ser388Arg (x2), c.1181A>G/p.Tyr394Cys (x3). MORC2 encodes an ATPase involved in chromatin remodeling, DNA repair and transcriptional regulation. Chromatin remodeling and epigenetic silencing by MORC2 is mediated by the HUSH (Human Silencing Hub) complex. Functional studies (MORC2-knockout HeLa cells harboring a HUSH-sensitive GFP reporter were transduced with wt or mt MORC2 followed by measurement of reporter repression) supported the deleterious effect of most variants known at the time (hyperactivation of HUSH-mediating silencing, in line with previous observations). Overall this gene can be considered for inclusion in the ID panel with green rating. Also other gene panels (e.g. for short stature, microcephaly, hearing loss, pigmentary retinopathy, etc) if it meets the respective criteria for inclusion. Sources: Literature |
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Mendeliome v0.3510 | DBT | Zornitza Stark Marked gene: DBT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3510 | DBT | Zornitza Stark Gene: dbt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3510 | DBT | Zornitza Stark Phenotypes for gene: DBT were changed from to Maple syrup urine disease, type II (MIM#248600) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3509 | DBT | Zornitza Stark Publications for gene: DBT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3508 | DBT | Zornitza Stark Mode of inheritance for gene: DBT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.34 | TINF2 | Zornitza Stark Marked gene: TINF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.34 | TINF2 | Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.34 | TINF2 | Zornitza Stark Classified gene: TINF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.34 | TINF2 | Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.33 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TINF2 were set to 21477109; 18252230 Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130 Review for gene: TINF2 was set to GREEN Added comment: Brain calcifications are part of the phenotype. Sources: Expert list |
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Brain Calcification v0.32 | TYROBP | Zornitza Stark Marked gene: TYROBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.32 | TYROBP | Zornitza Stark Gene: tyrobp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.32 | TYROBP | Zornitza Stark Classified gene: TYROBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.32 | TYROBP | Zornitza Stark Gene: tyrobp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.31 | TYROBP |
Zornitza Stark gene: TYROBP was added gene: TYROBP was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYROBP were set to 30242731 Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770 Review for gene: TYROBP was set to GREEN Added comment: Brain calcifications are part of the phenotype. Sources: Expert list |
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Brain Calcification v0.30 | RNASET2 | Zornitza Stark Marked gene: RNASET2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.30 | RNASET2 | Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.30 | RNASET2 | Zornitza Stark Classified gene: RNASET2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.30 | RNASET2 | Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.29 | RNASET2 |
Zornitza Stark gene: RNASET2 was added gene: RNASET2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954 Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Review for gene: RNASET2 was set to GREEN Added comment: Intracranial calcification is a feature of this condition. Sources: Expert list |
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Brain Calcification v0.28 | GALC | Zornitza Stark Marked gene: GALC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.28 | GALC | Zornitza Stark Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.28 | GALC | Zornitza Stark Classified gene: GALC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.28 | GALC | Zornitza Stark Gene: galc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.27 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200 Review for gene: GALC was set to GREEN Added comment: Thalamus calcification is a feature of Krabbe disease. Sources: Expert list |
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Brain Calcification v0.26 | TSC2 | Zornitza Stark Marked gene: TSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.26 | TSC2 | Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.26 | TSC2 | Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis 2, MIM# 613254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.25 | TSC2 | Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.24 | TSC2 | Zornitza Stark reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.24 | TSC1 | Zornitza Stark Marked gene: TSC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.24 | TSC1 | Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.24 | TSC1 | Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis 1, MIM# 191100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.23 | TSC1 | Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.22 | TSC1 | Zornitza Stark reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis 1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.22 | CYP2U1 | Zornitza Stark Marked gene: CYP2U1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.22 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.22 | CYP2U1 | Zornitza Stark Classified gene: CYP2U1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.22 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.21 | CYP2U1 |
Zornitza Stark gene: CYP2U1 was added gene: CYP2U1 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 23176821 Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, MIM# 615030 Review for gene: CYP2U1 was set to GREEN Added comment: Established gene-disease association, basal ganglia calcification is a feature. Sources: Expert list |
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Brain Calcification v0.20 | ACP5 | Zornitza Stark Marked gene: ACP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.20 | ACP5 | Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.20 | ACP5 | Zornitza Stark Classified gene: ACP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.20 | ACP5 | Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brain Calcification v0.19 | ACP5 |
Zornitza Stark gene: ACP5 was added gene: ACP5 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACP5 were set to 21217755; 21217752 Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia Review for gene: ACP5 was set to GREEN Added comment: Established gene-disease association, intracranial calcification is part of the phenotype. Sources: Expert list |
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Mendeliome v0.3507 | DBT | Teresa Zhao reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20570198; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.52 | CTSK | Zornitza Stark Classified gene: CTSK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.52 | CTSK | Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.51 | CTSK | Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.51 | Zornitza Stark removed gene:SLC2A2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3507 | PLCB3 | Zornitza Stark Marked gene: PLCB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3507 | PLCB3 | Zornitza Stark Gene: plcb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3507 | PLCB3 |
Zornitza Stark gene: PLCB3 was added gene: PLCB3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB3 were set to 29122926 Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Review for gene: PLCB3 was set to RED Added comment: Single consanguineous family reported. Sources: Expert list |
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Corneal Dystrophy v0.3 | PLCB3 | Zornitza Stark Marked gene: PLCB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.3 | PLCB3 | Zornitza Stark Gene: plcb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Corneal Dystrophy v0.3 | PLCB3 |
Zornitza Stark gene: PLCB3 was added gene: PLCB3 was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB3 were set to 29122926 Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Review for gene: PLCB3 was set to RED Added comment: Single consanguineous family reported. Sources: Expert list |
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Skeletal dysplasia v0.37 | PLCB3 |
Zornitza Stark gene: PLCB3 was added gene: PLCB3 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: PLCB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLCB3 were set to 29122926 Phenotypes for gene: PLCB3 were set to Spondylometaphyseal dysplasia with corneal dystrophy, MIM# 618961 Review for gene: PLCB3 was set to RED Added comment: Single consanguineous family reported. Sources: Expert list |
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Deafness_IsolatedAndComplex v0.369 | ACOX1 | Zornitza Stark Marked gene: ACOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.369 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.369 | ACOX1 | Zornitza Stark Classified gene: ACOX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.369 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Deafness_IsolatedAndComplex v0.368 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to Deafness_IsolatedAndComplex. Sources: Expert list Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACOX1 were set to 32169171 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960 Review for gene: ACOX1 was set to GREEN Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder. Sources: Expert list |
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Hereditary Neuropathy - complex v0.75 | ACOX1 | Zornitza Stark Marked gene: ACOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.75 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.75 | ACOX1 | Zornitza Stark Classified gene: ACOX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.75 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Neuropathy - complex v0.74 | ACOX1 |
Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Sources: Expert list; to: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder. Sources: Expert list |
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Hereditary Neuropathy - complex v0.74 | ACOX1 |
Zornitza Stark gene: ACOX1 was added gene: ACOX1 was added to Hereditary Neuropathy - complex. Sources: Expert list Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACOX1 were set to 32169171 Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960 Review for gene: ACOX1 was set to GREEN Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Sources: Expert list |
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Mendeliome v0.3506 | ACOX1 | Zornitza Stark Marked gene: ACOX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3506 | ACOX1 | Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3506 | ACOX1 | Zornitza Stark Phenotypes for gene: ACOX1 were changed from to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3505 | ACOX1 | Zornitza Stark Publications for gene: ACOX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3504 | ACOX1 | Zornitza Stark Mode of inheritance for gene: ACOX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3503 | ACOX1 | Zornitza Stark reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470, Mitchell syndrome, MIM# 618960; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Marked gene: LZTFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Classified gene: LZTFL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.106 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.105 | LRRC56 | Zornitza Stark Marked gene: LRRC56 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.105 | LRRC56 | Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.105 | LRRC56 | Zornitza Stark Classified gene: LRRC56 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.105 | LRRC56 | Zornitza Stark Gene: lrrc56 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3503 | MNS1 | Zornitza Stark Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3502 | MNS1 | Zornitza Stark edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.104 | MNS1 | Zornitza Stark Phenotypes for gene: MNS1 were changed from Heterotaxy; male infertility to Heterotaxy; male infertility; Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Heterotaxy v0.103 | MNS1 | Zornitza Stark edited their review of gene: MNS1: Changed phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility 618948 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lissencephaly and Band Heterotopia v0.43 | Bryony Thompson Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.74 | MPL | Zornitza Stark Marked gene: MPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.74 | MPL | Zornitza Stark Gene: mpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.74 | MPL | Zornitza Stark Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.73 | MPL | Zornitza Stark Publications for gene: MPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.72 | MPL | Zornitza Stark Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.71 | MPL | Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3502 | MPL | Zornitza Stark Marked gene: MPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3502 | MPL | Zornitza Stark Gene: mpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3502 | MPL | Zornitza Stark Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3501 | MPL | Zornitza Stark Publications for gene: MPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3500 | MPL | Zornitza Stark Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3499 | SH2B3 | Zornitza Stark Marked gene: SH2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3499 | SH2B3 | Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3499 | SH2B3 | Zornitza Stark Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3498 | SH2B3 | Zornitza Stark Publications for gene: SH2B3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3497 | SH2B3 | Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3496 | SH2B3 | Zornitza Stark changed review comment from: Germline variants reported in association with increased risk for haematological malignancies.; to: Germline variants reported in association with increased risk for haematological malignancies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3496 | SH2B3 | Zornitza Stark reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.21 | SH2B3 | Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.20 | SH2B3 | Zornitza Stark Marked gene: SH2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.20 | SH2B3 | Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.20 | SH2B3 | Zornitza Stark Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.19 | SH2B3 | Zornitza Stark Publications for gene: SH2B3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.19 | SH2B3 | Zornitza Stark Mode of inheritance for gene: SH2B3 was changed from Unknown to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.50 | Zornitza Stark removed gene:KCTD7 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.49 | Zornitza Stark removed gene:GRN from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.48 | GNE | Zornitza Stark Marked gene: GNE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.48 | GNE | Zornitza Stark Gene: gne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.48 | GNE | Zornitza Stark Classified gene: GNE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.48 | GNE | Zornitza Stark Gene: gne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.47 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to Lysosomal Storage Disorder. Sources: Expert list Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Nonaka myopathy, MIM# 605820 Review for gene: GNE was set to GREEN Added comment: Myopathy characterised by rimmed vacuoles on biopsy. Sources: Expert list |
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Lysosomal Storage Disorder v0.46 | GM2A | Zornitza Stark Marked gene: GM2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.46 | GM2A | Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.46 | GM2A | Zornitza Stark Classified gene: GM2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.46 | GM2A | Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.45 | GM2A |
Zornitza Stark gene: GM2A was added gene: GM2A was added to Lysosomal Storage Disorder. Sources: Expert list Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, MIM# 272750 Review for gene: GM2A was set to GREEN Added comment: Well established gene-disease association. Sources: Expert list |
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Lysosomal Storage Disorder v0.44 | Zornitza Stark removed gene:EPM2A from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.43 | CTSF | Zornitza Stark Marked gene: CTSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.43 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.43 | CTSF | Zornitza Stark Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.42 | CTSF | Zornitza Stark Publications for gene: CTSF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.41 | CTSF | Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.40 | CTSF | Zornitza Stark reviewed gene: CTSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28749476, 27668283, 27524508; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.40 | ATP13A2 | Zornitza Stark Marked gene: ATP13A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.40 | ATP13A2 | Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.40 | ATP13A2 | Zornitza Stark Phenotypes for gene: ATP13A2 were changed from to Spastic paraplegia 78, autosomal recessive 617225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.39 | ATP13A2 | Zornitza Stark Publications for gene: ATP13A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.38 | ATP13A2 | Zornitza Stark Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.37 | ATP13A2 | Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28137957, 31996848; Phenotypes: Spastic paraplegia 78, autosomal recessive 617225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3496 | MPL | Chern Lim reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.18 | SH2B3 | Chern Lim reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26457647, 23908464, 31102422, 31173385; Phenotypes: Predisposition to haematological malignancies; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3496 | HPD | Zornitza Stark Marked gene: HPD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3496 | HPD | Zornitza Stark Gene: hpd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3496 | HPD | Zornitza Stark Phenotypes for gene: HPD were changed from to Hawkinsinuria (MIM#140350), AD; Tyrosinemia type III (MIM#276710), AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3495 | HPD | Zornitza Stark Publications for gene: HPD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3494 | HPD | Zornitza Stark Mode of inheritance for gene: HPD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3493 | HPD | Zornitza Stark reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.7 | HPD | Teresa Zhao reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10942115, 17560158; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.70 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3493 | FANCM | Zornitza Stark Marked gene: FANCM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3493 | FANCM | Zornitza Stark Gene: fancm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3493 | FANCM | Zornitza Stark Phenotypes for gene: FANCM were changed from to Spermatogenic failure 28, MIM# 618086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3492 | FANCM | Zornitza Stark Publications for gene: FANCM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3491 | FANCM | Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3490 | FANCM | Zornitza Stark Classified gene: FANCM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3490 | FANCM | Zornitza Stark Gene: fancm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3489 | FANCM | Zornitza Stark reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: None; Publications: 30075111, 29895858, 28837162; Phenotypes: Spermatogenic failure 28, MIM# 618086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.71 | FANCM | Zornitza Stark Tag refuted tag was added to gene: FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.18 | FANCM | Zornitza Stark Marked gene: FANCM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.18 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.18 | FANCM | Zornitza Stark Tag refuted tag was added to gene: FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.18 | FANCM | Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.17 | FANCM | Zornitza Stark Publications for gene: FANCM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.16 | FANCM | Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.15 | FANCM | Zornitza Stark Classified gene: FANCM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.15 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cancer Predisposition_Paediatric v0.14 | FANCM | Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.19 | FANCM | Zornitza Stark Tag refuted tag was added to gene: FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.19 | FANCM | Zornitza Stark Marked gene: FANCM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.19 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.19 | FANCM | Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.18 | FANCM | Zornitza Stark Publications for gene: FANCM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.17 | FANCM | Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.16 | FANCM | Zornitza Stark Classified gene: FANCM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.16 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome Breakage Disorders v0.15 | FANCM | Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.69 | FANCM | Zornitza Stark Tag refuted tag was added to gene: FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.71 | FANCM | Zornitza Stark Marked gene: FANCM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.71 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.71 | FANCM | Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.70 | FANCM | Zornitza Stark Publications for gene: FANCM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.69 | FANCM | Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.68 | FANCM | Zornitza Stark Classified gene: FANCM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.68 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.67 | FANCM | Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.69 | FANCM | Zornitza Stark Marked gene: FANCM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.69 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.69 | FANCM | Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.68 | FANCM | Zornitza Stark Publications for gene: FANCM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.67 | FANCM | Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.66 | FANCM | Zornitza Stark Classified gene: FANCM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.66 | FANCM | Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.65 | FANCM | Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.65 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR2 were set to LADD syndrome, MIM#149730 Review for gene: FGFR2 was set to GREEN Added comment: Well established gene-disease association. Radial ray abnormalities are a feature of LADD syndrome. Sources: Expert list |
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Radial Ray Abnormalities v0.64 | FGFR3 | Zornitza Stark Marked gene: FGFR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.64 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.64 | FGFR3 | Zornitza Stark Classified gene: FGFR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.64 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.63 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730 Review for gene: FGFR3 was set to GREEN Added comment: Well established gene-disease association. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome. Sources: Expert list |
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Radial Ray Abnormalities v0.62 | FIG4 | Zornitza Stark Marked gene: FIG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.62 | FIG4 | Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.62 | FIG4 | Zornitza Stark Classified gene: FIG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.62 | FIG4 | Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.61 | FIG4 |
Zornitza Stark gene: FIG4 was added gene: FIG4 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 23623387 Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, MIM# 216340 Review for gene: FIG4 was set to GREEN Added comment: Absent thumbs are a feature of Yunis-Varon syndrome. Sources: Expert list |
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Radial Ray Abnormalities v0.60 | FLNA | Zornitza Stark Marked gene: FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.60 | FLNA | Zornitza Stark Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.60 | FLNA | Zornitza Stark Classified gene: FLNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.60 | FLNA | Zornitza Stark Gene: flna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.59 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 12612583 Phenotypes for gene: FLNA were set to Melnick-Needles syndrome, 309350 Review for gene: FLNA was set to GREEN Added comment: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs Sources: Expert list |
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Radial Ray Abnormalities v0.58 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.58 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.58 | GATA1 | Zornitza Stark Classified gene: GATA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.58 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.57 | GATA1 | Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.5 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.5 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.5 | HDAC8 | Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.4 | HDAC8 | Zornitza Stark Publications for gene: HDAC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.3 | HDAC8 | Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.2 | HDAC8 | Zornitza Stark Classified gene: HDAC8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.2 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital diaphragmatic hernia v0.1 | HDAC8 | Zornitza Stark reviewed gene: HDAC8: Rating: RED; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrichosis syndromes v0.16 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrichosis syndromes v0.16 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrichosis syndromes v0.16 | HDAC8 | Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrichosis syndromes v0.15 | HDAC8 | Zornitza Stark Publications for gene: HDAC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrichosis syndromes v0.14 | HDAC8 | Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypertrichosis syndromes v0.13 | HDAC8 | Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3489 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3489 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3489 | HDAC8 | Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3488 | HDAC8 | Zornitza Stark Publications for gene: HDAC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3487 | HDAC8 | Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3486 | HDAC8 | Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2783 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2783 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2783 | HDAC8 | Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2782 | HDAC8 | Zornitza Stark Publications for gene: HDAC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2781 | HDAC8 | Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability syndromic and non-syndromic v0.2780 | HDAC8 | Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.57 | HDAC8 | Zornitza Stark Marked gene: HDAC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.57 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.57 | HDAC8 | Zornitza Stark Classified gene: HDAC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.57 | HDAC8 | Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.56 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HDAC8 were set to 30614194; 24403048 Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome 5, MIM# 300882 Review for gene: HDAC8 was set to GREEN Added comment: Well established CdL gene. Sources: Expert list |
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Radial Ray Abnormalities v0.55 | HOXA13 | Zornitza Stark Marked gene: HOXA13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.55 | HOXA13 | Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.55 | HOXA13 | Zornitza Stark Classified gene: HOXA13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.55 | HOXA13 | Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.54 | HOXA13 |
Zornitza Stark gene: HOXA13 was added gene: HOXA13 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000 Review for gene: HOXA13 was set to GREEN Added comment: Well established gene-disease association, hypoplastic thumbs reported. Sources: Expert list |
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Radial Ray Abnormalities v0.53 | LMBR1 | Zornitza Stark Marked gene: LMBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.53 | LMBR1 | Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.53 | LMBR1 | Zornitza Stark Classified gene: LMBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.53 | LMBR1 | Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.52 | LMBR1 |
Zornitza Stark gene: LMBR1 was added gene: LMBR1 was added to Radial Ray Abnormalities. Sources: Expert list SV/CNV tags were added to gene: LMBR1. Mode of inheritance for gene: LMBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome, MIM# 135750 Review for gene: LMBR1 was set to GREEN Added comment: Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb. Sources: Expert list |
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Radial Ray Abnormalities v0.51 | NIPBL | Zornitza Stark Marked gene: NIPBL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.51 | NIPBL | Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.51 | NIPBL | Zornitza Stark Classified gene: NIPBL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.51 | NIPBL | Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.50 | NIPBL |
Zornitza Stark gene: NIPBL was added gene: NIPBL was added to Radial Ray Abnormalities. Sources: Expert list 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 1, MIM# 122470 Review for gene: NIPBL was set to GREEN Added comment: Well established gene-disease association. Radial ray abnormalities are a key part of the phenotype. Sources: Expert list |
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Radial Ray Abnormalities v0.49 | RAD21 | Zornitza Stark Marked gene: RAD21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.49 | RAD21 | Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.49 | RAD21 | Zornitza Stark Classified gene: RAD21 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.49 | RAD21 | Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.48 | RAD21 |
Zornitza Stark gene: RAD21 was added gene: RAD21 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD21 were set to 32193685 Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, MIM# 614701 Review for gene: RAD21 was set to GREEN Added comment: Recent large series of over 40 affected individuals published. Radial ray abnormalities are part of the phenotype. Sources: Expert list |
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Radial Ray Abnormalities v0.47 | RAD51C | Zornitza Stark Marked gene: RAD51C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.47 | RAD51C | Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.47 | RAD51C | Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.46 | RAD51C | Zornitza Stark Publications for gene: RAD51C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.45 | RAD51C | Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.44 | RAD51C | Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3486 | RBM8A | Zornitza Stark Tag SV/CNV tag was added to gene: RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3486 | RBM8A | Zornitza Stark Marked gene: RBM8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3486 | RBM8A | Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3486 | RBM8A | Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM# 274000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3485 | RBM8A | Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3484 | RBM8A | Zornitza Stark reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.67 | RBM8A | Zornitza Stark Marked gene: RBM8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.67 | RBM8A | Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.67 | RBM8A | Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM# 274000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.66 | RBM8A | Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.65 | RBM8A | Zornitza Stark Tag SV/CNV tag was added to gene: RBM8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.65 | RBM8A | Zornitza Stark reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Marked gene: RBM8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Classified gene: RBM8A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.44 | RBM8A | Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.43 | RBM8A |
Zornitza Stark gene: RBM8A was added gene: RBM8A was added to Radial Ray Abnormalities. Sources: Expert list SV/CNV tags were added to gene: RBM8A. Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000 Review for gene: RBM8A was set to GREEN Added comment: Vast majority are due to a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%. Sources: Expert list |
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Radial Ray Abnormalities v0.42 | RECQL4 | Zornitza Stark Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.42 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.42 | RECQL4 | Zornitza Stark Classified gene: RECQL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.42 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.41 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400 Review for gene: RECQL4 was set to GREEN Added comment: Well established gene-disease association, radial ray abnormalities are a key feature. Sources: Expert list |
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Mendeliome v0.3484 | RPL15 | Zornitza Stark Marked gene: RPL15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3484 | RPL15 | Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3484 | RPL15 | Zornitza Stark Phenotypes for gene: RPL15 were changed from to Diamond-Blackfan anemia 12, MIM# 615550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3483 | RPL15 | Zornitza Stark Publications for gene: RPL15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3482 | RPL15 | Zornitza Stark Mode of inheritance for gene: RPL15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3481 | RPL15 | Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812780, 29599205; Phenotypes: Diamond-Blackfan anemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.16 | RPL15 | Zornitza Stark Marked gene: RPL15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.16 | RPL15 | Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.16 | RPL15 | Zornitza Stark Phenotypes for gene: RPL15 were changed from Diamond-Blackfan anemia 12, MIM# 615550 to Diamond-Blackfan anemia 12, MIM# 615550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.16 | RPL15 | Zornitza Stark Phenotypes for gene: RPL15 were changed from to Diamond-Blackfan anemia 12, MIM# 615550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.40 | RPL15 | Zornitza Stark Marked gene: RPL15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.40 | RPL15 | Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.15 | RPL15 | Zornitza Stark Publications for gene: RPL15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.14 | RPL15 | Zornitza Stark Mode of inheritance for gene: RPL15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.13 | RPL15 | Zornitza Stark reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: None; Publications: 23812780, 29599205; Phenotypes: Diamond-Blackfan anemia 12, MIM# 615550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.40 | RPL15 | Zornitza Stark Classified gene: RPL15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.40 | RPL15 | Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.39 | RPL15 |
Zornitza Stark gene: RPL15 was added gene: RPL15 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL15 were set to 23812780; 29599205 Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550 Review for gene: RPL15 was set to GREEN Added comment: Seven unrelated individuals reported to date. Sources: Expert list |
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Pierre Robin Sequence v0.12 | RPS28 | Zornitza Stark Marked gene: RPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.12 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.12 | RPS28 | Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.11 | RPS28 | Zornitza Stark Publications for gene: RPS28 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.10 | RPS28 | Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.9 | RPS28 | Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.9 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pierre Robin Sequence v0.8 | RPS28 | Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3481 | RPS28 | Zornitza Stark Marked gene: RPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3481 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3481 | RPS28 | Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3480 | RPS28 | Zornitza Stark Publications for gene: RPS28 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3479 | RPS28 | Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3478 | RPS28 | Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3478 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3477 | RPS28 | Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.10 | RPS28 | Zornitza Stark Marked gene: RPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.10 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.10 | RPS28 | Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.9 | RPS28 | Zornitza Stark Publications for gene: RPS28 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.8 | RPS28 | Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.7 | RPS28 | Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.7 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mandibulofacial Acrofacial dysostosis v0.6 | RPS28 | Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.88 | ADA2 | Bryony Thompson Marked gene: ADA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.88 | ADA2 | Bryony Thompson Gene: ada2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.88 | ADA2 | Bryony Thompson Classified gene: ADA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.88 | ADA2 | Bryony Thompson Gene: ada2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.87 | ADA2 |
Bryony Thompson gene: ADA2 was added gene: ADA2 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 26922074; 29963054; 32659374; 24552284; 28493328; 28493328 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency Review for gene: ADA2 was set to GREEN Added comment: Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis. Sources: Literature |
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Common Variable Immunodeficiency v0.86 | BLK |
Bryony Thompson gene: BLK was added gene: BLK was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BLK were set to 25926555 Phenotypes for gene: BLK were set to common variable immunodeficiency Review for gene: BLK was set to AMBER Added comment: A single family with 2 affected cases with a heterozygous missense (L3P), with supporting in vitro and patient cell assays. Sources: Literature |
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Common Variable Immunodeficiency v0.85 | VAV1 |
Bryony Thompson gene: VAV1 was added gene: VAV1 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: VAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAV1 were set to 20638113; 23058036 Phenotypes for gene: VAV1 were set to Common variable immnodeficiency Review for gene: VAV1 was set to RED Added comment: Reduced VAV1 expression has been reported in multiple T-CVID cases, however only one large deletion (exon 2-27) has been reported in a single case in a publication from 2012. The CNV was detected using real-time qPCR, but was not confirmed by an orthogonal method. Sources: Literature |
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Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Marked gene: PLCG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Gene: plcg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Classified gene: PLCG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Gene: plcg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.83 | PLCG2 |
Bryony Thompson gene: PLCG2 was added gene: PLCG2 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG2 were set to 31853824; 32671674; 22236196 Phenotypes for gene: PLCG2 were set to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Mode of pathogenicity for gene: PLCG2 was set to Other Review for gene: PLCG2 was set to GREEN Added comment: 7 cases from 5 unrelated families reported with a clinical diagnosis of CVID or hypogammaglobulinemia and heterozygous gain-of-function nonsynonymous variants. Sources: Literature |
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Common Variable Immunodeficiency v0.82 | LRBA | Bryony Thompson Marked gene: LRBA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.82 | LRBA | Bryony Thompson Gene: lrba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.82 | LRBA | Bryony Thompson Classified gene: LRBA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.82 | LRBA | Bryony Thompson Gene: lrba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.81 | LRBA |
Bryony Thompson gene: LRBA was added gene: LRBA was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22608502; 32506362 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Review for gene: LRBA was set to GREEN Added comment: At least 5 unrelated consanguineous families reported with CVID. Sources: Literature |
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Common Variable Immunodeficiency v0.80 | IL21 | Bryony Thompson Marked gene: IL21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.80 | IL21 | Bryony Thompson Gene: il21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.80 | IL21 |
Bryony Thompson gene: IL21 was added gene: IL21 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21 were set to 24746753; 19738033 Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11 MIM#615767 Review for gene: IL21 was set to RED Added comment: A single case with a homozygous loss of function variant has been identified with a IBD and CVID-like disorder. Animal models exist in OMIM, but unsure if the null mouse model recapitulates the human phenotype. Sources: Literature |
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Diamond Blackfan anaemia v0.13 | RPS28 | Zornitza Stark Marked gene: RPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.13 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.13 | RPS28 | Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.12 | RPS28 | Zornitza Stark Publications for gene: RPS28 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.11 | RPS28 | Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.10 | RPS28 | Zornitza Stark Classified gene: RPS28 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.10 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.9 | RPS28 | Zornitza Stark reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.38 | RPS28 | Zornitza Stark Marked gene: RPS28 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.38 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.38 | RPS28 | Zornitza Stark Phenotypes for gene: RPS28 were changed from to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.37 | RPS28 | Zornitza Stark Publications for gene: RPS28 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.36 | RPS28 | Zornitza Stark Mode of inheritance for gene: RPS28 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.35 | RPS28 | Zornitza Stark Classified gene: RPS28 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.35 | RPS28 | Zornitza Stark Gene: rps28 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.34 | RPS28 | Zornitza Stark reviewed gene: RPS28: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3477 | RPS29 | Zornitza Stark Marked gene: RPS29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3477 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3477 | RPS29 | Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3476 | RPS29 | Zornitza Stark Publications for gene: RPS29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3475 | RPS29 | Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3474 | RPS29 | Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3474 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3473 | RPS29 | Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.65 | RPS29 | Zornitza Stark Marked gene: RPS29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.65 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.65 | RPS29 | Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.64 | RPS29 | Zornitza Stark Publications for gene: RPS29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.63 | RPS29 | Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.62 | RPS29 | Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.62 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bone Marrow Failure v0.61 | RPS29 | Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.9 | RPS29 | Zornitza Stark Marked gene: RPS29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.9 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.9 | RPS29 | Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.8 | RPS29 | Zornitza Stark Publications for gene: RPS29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.7 | RPS29 | Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.6 | RPS29 | Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.6 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Diamond Blackfan anaemia v0.5 | RPS29 | Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.34 | RPS29 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.34 | RPS29 | Zornitza Stark commented on gene: RPS29: Two families reported in 2014, none since. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.78 | MAP3K14 | Bryony Thompson Marked gene: MAP3K14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.78 | MAP3K14 | Bryony Thompson Gene: map3k14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.78 | MAP3K14 | Bryony Thompson Phenotypes for gene: MAP3K14 were changed from to hypogammaglobulinemia; recurrent infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.77 | MAP3K14 | Bryony Thompson Publications for gene: MAP3K14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Common Variable Immunodeficiency v0.76 | MAP3K14 | Bryony Thompson reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: None; Publications: 29230214, 11251123, 25406581; Phenotypes: hypogammaglobulinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.34 | RPS29 | Zornitza Stark Marked gene: RPS29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.34 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.34 | RPS29 | Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.33 | RPS29 | Zornitza Stark Publications for gene: RPS29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.32 | RPS29 | Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.31 | RPS29 | Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.31 | RPS29 | Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.30 | RPS29 | Zornitza Stark edited their review of gene: RPS29: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.30 | RPS29 | Zornitza Stark reviewed gene: RPS29: Rating: ; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.30 | SF3B4 | Zornitza Stark Marked gene: SF3B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.30 | SF3B4 | Zornitza Stark Gene: sf3b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.30 | SF3B4 | Zornitza Stark Classified gene: SF3B4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.30 | SF3B4 | Zornitza Stark Gene: sf3b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.29 | SF3B4 |
Zornitza Stark gene: SF3B4 was added gene: SF3B4 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SF3B4 were set to 22541558 Phenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type, MIM# 154400 Review for gene: SF3B4 was set to GREEN Added comment: Well established gene-disease association, radial ray abnormalities are a key feature. Sources: Expert list |
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Radial Ray Abnormalities v0.28 | SHOX | Zornitza Stark Marked gene: SHOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.28 | SHOX | Zornitza Stark Gene: shox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.28 | SHOX | Zornitza Stark Classified gene: SHOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.28 | SHOX | Zornitza Stark Gene: shox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.27 | SHOX |
Zornitza Stark gene: SHOX was added gene: SHOX was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SHOX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700 Review for gene: SHOX was set to GREEN Added comment: Well established gene-disease association, radial ray abnormalities are a key feature. Sources: Expert list |
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Radial Ray Abnormalities v0.26 | UBE2T | Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.26 | SMC1A | Zornitza Stark Marked gene: SMC1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.26 | SMC1A | Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.26 | SMC1A | Zornitza Stark Classified gene: SMC1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.26 | SMC1A | Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.25 | SMC1A |
Zornitza Stark gene: SMC1A was added gene: SMC1A was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590 Review for gene: SMC1A was set to GREEN Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. XLD. Sources: Expert list |
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Radial Ray Abnormalities v0.24 | SMC3 | Zornitza Stark edited their review of gene: SMC3: Changed publications: 25125236, 25655089; Changed phenotypes: Cornelia de Lange syndrome 3, MIM# 610759 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.24 | SMC3 | Zornitza Stark Marked gene: SMC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.24 | SMC3 | Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.24 | SMC3 | Zornitza Stark Publications for gene: SMC3 were set to 25125236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.23 | SMC3 | Zornitza Stark Classified gene: SMC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.23 | SMC3 | Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.22 | SMC3 |
Zornitza Stark gene: SMC3 was added gene: SMC3 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMC3 were set to 25125236 Phenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM# 610759 Review for gene: SMC3 was set to GREEN Added comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. Sources: Expert list |
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Radial Ray Abnormalities v0.21 | UBE2T | Zornitza Stark Marked gene: UBE2T as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.21 | UBE2T | Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.21 | UBE2T | Zornitza Stark Classified gene: UBE2T as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.21 | UBE2T | Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.20 | UBE2T |
Zornitza Stark gene: UBE2T was added gene: UBE2T was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368; 26085575; 26119737 Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435 Review for gene: UBE2T was set to GREEN Added comment: At least three families reported, including with radial ray abnormalities. Note some of the variants are CNVs. Sources: Expert list |
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Radial Ray Abnormalities v0.19 | WNT7A | Zornitza Stark Marked gene: WNT7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.19 | WNT7A | Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.19 | WNT7A | Zornitza Stark Classified gene: WNT7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.19 | WNT7A | Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.18 | WNT7A |
Zornitza Stark gene: WNT7A was added gene: WNT7A was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7A were set to 21344627; 20949531; 16826533 Phenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 Review for gene: WNT7A was set to GREEN Added comment: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting). Sources: Expert list |
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Radial Ray Abnormalities v0.17 | ZIC3 | Zornitza Stark Marked gene: ZIC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.17 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.17 | ZIC3 | Zornitza Stark Classified gene: ZIC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.17 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.16 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZIC3 were set to 21465648; 20452998; 26294094 Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390 Review for gene: ZIC3 was set to GREEN Added comment: Several families reported with VACTERL-H association, gene is also linked to laterality defects and isolated congenital heart disease. Sources: Expert list |
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Mendeliome v0.3473 | UMOD | Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3472 | UMOD | Zornitza Stark edited their review of gene: UMOD: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.22 | MUC1 | Zornitza Stark Marked gene: MUC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.22 | MUC1 | Zornitza Stark Gene: muc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.22 | MUC1 | Zornitza Stark Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1, MIM# 174000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.21 | MUC1 | Zornitza Stark Publications for gene: MUC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.20 | MUC1 | Zornitza Stark Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.19 | MUC1 | Zornitza Stark reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23396133; Phenotypes: Medullary cystic kidney disease 1, MIM# 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3472 | REN | Zornitza Stark Marked gene: REN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3472 | REN | Zornitza Stark Gene: ren has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3472 | REN | Zornitza Stark Phenotypes for gene: REN were changed from to Renal tubular dysgenesis, MIM# 267430; Autosomal dominant tubulointerstitial disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3471 | REN | Zornitza Stark Publications for gene: REN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3470 | REN | Zornitza Stark Mode of inheritance for gene: REN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3469 | REN | Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 31586593, 31406136, 28701203, 21473025; Phenotypes: Renal tubular dysgenesis, MIM# 267430, Autosomal dominant tubulointerstitial disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.19 | REN | Zornitza Stark Marked gene: REN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.19 | REN | Zornitza Stark Gene: ren has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.19 | REN | Zornitza Stark Phenotypes for gene: REN were changed from to Autosomal dominant tubulointerstitial disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.18 | REN | Zornitza Stark Publications for gene: REN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.17 | REN | Zornitza Stark Mode of inheritance for gene: REN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal Tubulointerstitial Disease v0.16 | REN | Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586593, 31406136, 28701203, 21473025; Phenotypes: Autosomal dominant tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3469 | MDH1 | Zornitza Stark Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3468 | MDH1 | Zornitza Stark edited their review of gene: MDH1: Changed phenotypes: epilepsy, microcephaly, intellectual disability, Epileptic encephalopathy, early infantile, 88, MIM#618959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.760 | MDH1 | Zornitza Stark Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.759 | MDH1 | Zornitza Stark reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31538237,; Phenotypes: Epileptic encephalopathy, early infantile, 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3468 | IL6R | Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3467 | IL6R | Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.159 | IL6R | Zornitza Stark Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v0.158 | IL6R | Zornitza Stark edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.20 | GAA | Zornitza Stark Marked gene: GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.20 | GAA | Zornitza Stark Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.20 | GAA | Zornitza Stark Phenotypes for gene: GAA were changed from to Glycogen storage disease II (MIM#232300) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.19 | GAA | Zornitza Stark Publications for gene: GAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.18 | GAA | Zornitza Stark Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.17 | RBCK1 | Zornitza Stark Marked gene: RBCK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.17 | RBCK1 | Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.37 | Zornitza Stark removed gene:PYGM from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.36 | Zornitza Stark removed gene:PYGL from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.35 | Zornitza Stark removed gene:PRKAG2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.34 | Zornitza Stark removed gene:PHKA2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.33 | Zornitza Stark removed gene:PGM1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.32 | Zornitza Stark removed gene:PGK1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.31 | Zornitza Stark removed gene:PGAM2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.30 | Zornitza Stark removed gene:PFKM from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.29 | Zornitza Stark removed gene:LDHA from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.28 | Zornitza Stark removed gene:GYS2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.27 | Zornitza Stark removed gene:GYS1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.26 | Zornitza Stark removed gene:GYG1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.25 | Zornitza Stark removed gene:GBE1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.24 | Zornitza Stark removed gene:G6PC from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.23 | Zornitza Stark removed gene:ENO3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.22 | Zornitza Stark removed gene:ALDOA from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.21 | Zornitza Stark removed gene:AGL from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.20 | Zornitza Stark removed gene:SLC37A4 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.19 |
Zornitza Stark Panel name changed from Storage Disorder to Lysosomal Storage Disorder Panel types changed to Victorian Clinical Genetics Services; Rare Disease |
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Mendeliome v0.3467 | UVSSA | Zornitza Stark Marked gene: UVSSA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3467 | UVSSA | Zornitza Stark Gene: uvssa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3467 | UVSSA | Zornitza Stark Phenotypes for gene: UVSSA were changed from to UV-sensitive syndrome 3 (MIM#614640) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3466 | UVSSA | Zornitza Stark Publications for gene: UVSSA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3465 | UVSSA | Zornitza Stark Mode of inheritance for gene: UVSSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3464 | SEC23A | Zornitza Stark Marked gene: SEC23A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3464 | SEC23A | Zornitza Stark Gene: sec23a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3464 | SEC23A | Zornitza Stark Phenotypes for gene: SEC23A were changed from to Craniolenticulosutural dysplasia (MIM# 607812) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3463 | SEC23A | Zornitza Stark Publications for gene: SEC23A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3462 | SEC23A | Zornitza Stark Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3461 | SEC23A | Zornitza Stark Classified gene: SEC23A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3461 | SEC23A | Zornitza Stark Gene: sec23a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3460 | DACT1 | Zornitza Stark Marked gene: DACT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3460 | DACT1 | Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3460 | DACT1 | Zornitza Stark Phenotypes for gene: DACT1 were changed from ?Townes-Brocks syndrome 2 (OMIM #617466) to Townes-Brocks syndrome 2 (OMIM #617466) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3459 | DACT1 | Zornitza Stark Classified gene: DACT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3459 | DACT1 | Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3458 | VPS33A | Zornitza Stark Marked gene: VPS33A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3458 | VPS33A | Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3458 | VPS33A | Zornitza Stark Phenotypes for gene: VPS33A were changed from to Mucopolysaccharidosis-plus syndrome (MIM#617303) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3457 | VPS33A | Zornitza Stark Publications for gene: VPS33A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3456 | VPS33A | Zornitza Stark Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3455 | VPS33A | Zornitza Stark Classified gene: VPS33A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3455 | VPS33A | Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3454 | VPS33A | Zornitza Stark reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.18 | VPS33A | Zornitza Stark Marked gene: VPS33A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.18 | VPS33A | Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.18 | VPS33A | Zornitza Stark Phenotypes for gene: VPS33A were changed from to Mucopolysaccharidosis-plus syndrome (MIM#617303) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.17 | VPS33A | Zornitza Stark Publications for gene: VPS33A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.16 | VPS33A | Zornitza Stark Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.15 | VPS33A | Zornitza Stark Classified gene: VPS33A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.15 | VPS33A | Zornitza Stark Gene: vps33a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.14 | CTNS | Zornitza Stark Marked gene: CTNS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.14 | CTNS | Zornitza Stark Gene: ctns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.14 | CTNS | Zornitza Stark Classified gene: CTNS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.14 | CTNS | Zornitza Stark Gene: ctns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.13 | SLC2A2 | Zornitza Stark Marked gene: SLC2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.13 | SLC2A2 | Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.13 | SLC2A2 | Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome (MIM#227810) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.12 | SLC2A2 | Zornitza Stark Publications for gene: SLC2A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.11 | SLC2A2 | Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.17 | SLC37A4 | Zornitza Stark Marked gene: SLC37A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.17 | SLC37A4 | Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.17 | SLC37A4 | Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.16 | SLC37A4 | Zornitza Stark Publications for gene: SLC37A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.15 | SLC37A4 | Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.14 | SLC2A2 | Zornitza Stark Marked gene: SLC2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.14 | SLC2A2 | Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.14 | SLC2A2 | Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome (MIM#227810) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.13 | SLC2A2 | Zornitza Stark Publications for gene: SLC2A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.12 | SLC2A2 | Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.15 | FGF10 | Zornitza Stark Marked gene: FGF10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.15 | FGF10 | Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.15 | FGF10 | Zornitza Stark Classified gene: FGF10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.15 | FGF10 | Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.148 | LFNG | Zornitza Stark Marked gene: LFNG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.148 | LFNG | Zornitza Stark Gene: lfng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.148 | LFNG | Zornitza Stark Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.147 | LFNG | Zornitza Stark Publications for gene: LFNG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.146 | LFNG | Zornitza Stark Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.145 | LFNG | Zornitza Stark Classified gene: LFNG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.145 | LFNG | Zornitza Stark Gene: lfng has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.144 | LFNG | Zornitza Stark edited their review of gene: LFNG: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.144 | LFNG | Zornitza Stark changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported.; to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported and two mouse models. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.144 | LFNG | Zornitza Stark edited their review of gene: LFNG: Changed publications: 9690472, 16385447, 30531807, 9690473 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.144 | LFNG | Zornitza Stark Classified gene: LFNG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.144 | LFNG | Zornitza Stark Gene: lfng has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.143 | LFNG | Zornitza Stark reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: None; Publications: 16385447, 30531807; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.143 | DHDDS | Zornitza Stark Marked gene: DHDDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.143 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.143 | DHDDS | Zornitza Stark Phenotypes for gene: DHDDS were changed from to Congenital disorder of glycosylation, type 1bb, MIM# 613861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.142 | DHDDS | Zornitza Stark Publications for gene: DHDDS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.141 | DHDDS | Zornitza Stark Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.140 | DHDDS | Zornitza Stark Classified gene: DHDDS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.140 | DHDDS | Zornitza Stark Gene: dhdds has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.139 | DHDDS | Zornitza Stark edited their review of gene: DHDDS: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.139 | DHDDS | Zornitza Stark reviewed gene: DHDDS: Rating: ; Mode of pathogenicity: None; Publications: 27343064; Phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3454 | COG2 | Zornitza Stark Marked gene: COG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3454 | COG2 | Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3454 | COG2 | Zornitza Stark Phenotypes for gene: COG2 were changed from to Congenital disorder of glycosylation, type IIq (MIM# 617395) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3453 | COG2 | Zornitza Stark Publications for gene: COG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3452 | COG2 | Zornitza Stark Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3451 | COG2 | Zornitza Stark Classified gene: COG2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3451 | COG2 | Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.139 | ALG14 | Zornitza Stark Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.138 | ALG14 | Zornitza Stark edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual disability, Disorder of N-glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.138 | ALG14 | Zornitza Stark changed review comment from: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; to: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.14 | FGF10 |
Natalie Tan gene: FGF10 was added gene: FGF10 was added to Radial Ray Abnormalities. Sources: NHS GMS Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF10 were set to PMID: 15654336; 16501574; 16630169; 17682060 Phenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920) Review for gene: FGF10 was set to GREEN Added comment: Multiple unrelated individuals with heterozygous variants reported in association with LADD syndrome, which manifests variable radial ray features. Allelic condition: aplasia of lacrimal and salivary glands. Sources: NHS GMS |
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Congenital Disorders of Glycosylation v0.138 | B4GALNT1 | Zornitza Stark Marked gene: B4GALNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.138 | B4GALNT1 | Zornitza Stark Gene: b4galnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.138 | B4GALNT1 | Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from to Spastic paraplegia 26, autosomal recessive (MIM #609195) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.137 | B4GALNT1 | Zornitza Stark Publications for gene: B4GALNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.136 | B4GALNT1 | Zornitza Stark Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.11 | SLC2A2 | Crystle Lee reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.11 | SLC37A4 | Crystle Lee reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3450 | COG2 | Ain Roesley reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.135 | COG2 | Zornitza Stark Marked gene: COG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.135 | COG2 | Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.10 | SLC2A2 | Crystle Lee reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.135 | COG2 | Zornitza Stark Phenotypes for gene: COG2 were changed from to Congenital disorder of glycosylation, type IIq (MIM# 617395) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.134 | COG2 | Zornitza Stark Publications for gene: COG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.133 | COG2 | Zornitza Stark Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.132 | COG2 | Zornitza Stark Classified gene: COG2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.132 | COG2 | Zornitza Stark Gene: cog2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.131 | COG2 | Ain Roesley reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.131 | B4GALNT1 |
Paul De Fazio changed review comment from: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM). 5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.; to: Summary: 8 families described in total. The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM). 5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911. |
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Congenital Disorders of Glycosylation v0.131 | B4GALNT1 |
Paul De Fazio changed review comment from: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM). 5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). Another 3 families with progressive weakness and spasticity were described in PMID:24103911.; to: The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM). 5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911. |
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Congenital Disorders of Glycosylation v0.131 | B4GALNT1 | Paul De Fazio reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM #609195); Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3450 | DACT1 |
Natalie Tan gene: DACT1 was added gene: DACT1 was added to Mendeliome. Sources: NHS GMS Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DACT1 were set to PMID: 28054444; 22610794; 19701191 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2 (OMIM #617466) Review for gene: DACT1 was set to RED Added comment: Webb et al. (2017) reported 6 affected members of a 3-generation family with ?Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated with disease. Clinical features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, overfolded helices and cupped ears. One family member (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444). Sources: NHS GMS |
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Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Marked gene: CTSK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Classified gene: CTSK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.10 | CTSK | Zornitza Stark Gene: ctsk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.9 | SLC37A4 | Zornitza Stark Marked gene: SLC37A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.9 | SLC37A4 | Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.9 | SLC37A4 | Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.8 | SLC37A4 | Zornitza Stark Publications for gene: SLC37A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.7 | SLC37A4 | Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3450 | G6PC3 | Zornitza Stark Marked gene: G6PC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3450 | G6PC3 | Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.131 | GORAB | Seb Lunke Marked gene: GORAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.131 | GORAB | Seb Lunke Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3450 | G6PC3 | Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.131 | GORAB | Seb Lunke Classified gene: GORAB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.131 | GORAB | Seb Lunke Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3449 | G6PC3 | Zornitza Stark Publications for gene: G6PC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3448 | G6PC3 | Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3447 | POGLUT1 | Zornitza Stark Marked gene: POGLUT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3447 | POGLUT1 | Zornitza Stark Gene: poglut1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3447 | POGLUT1 | Zornitza Stark Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3446 | POGLUT1 | Zornitza Stark Publications for gene: POGLUT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3445 | POGLUT1 | Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Marked gene: SUMF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.53 | CTSF | Zornitza Stark Classified gene: CTSF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.53 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.53 | CTSF | Zornitza Stark Marked gene: CTSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.53 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Classified gene: SUMF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.6 | SUMF1 | Seb Lunke Gene: sumf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.53 | CTSF | Zornitza Stark Classified gene: CTSF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.53 | CTSF | Zornitza Stark Gene: ctsf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.130 | GORAB |
Naomi Baker gene: GORAB was added gene: GORAB was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GORAB were set to PMID: 18348262; 28807865; 30631079. Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070 Penetrance for gene: GORAB were set to Complete Review for gene: GORAB was set to GREEN Added comment: Many individuals reported in consanguineous families with Geroderma osteodysplasticum. Patients often have normal isoelectric focusing of serum transferrin. Recent publication demonstrated that loss of GORAB causes impairment of COPI-mediated retrieval of trans-Golgi enzymes, resulting in a deficit in glycosylation of secretory cargo proteins, thus supporting the view that defective protein glycosylation is a major disease mechanism in gerodermia osteodysplastica (PMID: 30631079). Sources: Literature |
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Radial Ray Abnormalities v0.14 | DACT1 | Zornitza Stark Marked gene: DACT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.14 | DACT1 | Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.14 | DACT1 | Zornitza Stark Classified gene: DACT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.14 | DACT1 | Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.13 | ESCO2 | Seb Lunke Marked gene: ESCO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.13 | ESCO2 | Seb Lunke Gene: esco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.13 | ESCO2 | Seb Lunke Publications for gene: ESCO2 were set to PMID: 19574259; 16380922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | G6PC3 | Belinda Chong reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.12 | ESCO2 | Seb Lunke Classified gene: ESCO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.12 | ESCO2 | Seb Lunke Gene: esco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.5 | SLC37A4 | Crystle Lee reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.130 | G6PC3 | Zornitza Stark Marked gene: G6PC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.130 | G6PC3 | Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.130 | G6PC3 | Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.11 | ESCO2 |
Natalie Tan changed review comment from: Sources: NHS GMS; to: Sources: NHS GMS Multiple unrelated individuals with biallelic variants in association with Roberts syndrome/SC phocomelia spectrum. |
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Lysosomal Storage Disorder v0.5 | CTSK |
Elena Savva gene: CTSK was added gene: CTSK was added to Storage Disorder. Sources: Expert list Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSK were set to PMID: 32667742; 25725806; 25304337 Phenotypes for gene: CTSK were set to Pycnodysostosis 265800 Review for gene: CTSK was set to AMBER Added comment: OMIN: Cathepsin K a member of the papain family of cysteine proteinases, plays an important role in osteoclast function PMID: 32667742 - analysis of cells affected by granular corneal dystrophy shows reduced CTSK protein and lysosomal defects. PMID: 25725806: 1 family with pycnodysostosis. Protein described as a lysosomal cysteine protease PMID: 25304337 - 1 patient with pycnodysostosis, described as a lysosomal storage disorder Summary: disease is described as a lysosomal disorder but no cell studies on lysosome function or protein studies found. Sources: Expert list |
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Congenital Disorders of Glycosylation v0.129 | G6PC3 | Zornitza Stark Publications for gene: G6PC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | POGLUT1 | Ain Roesley reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807076, 24387993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.128 | G6PC3 | Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.127 | POMK | Seb Lunke Marked gene: POMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.127 | POMK | Seb Lunke Gene: pomk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.127 | POMK | Seb Lunke Mode of inheritance for gene: POMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.126 | POGLUT1 | Zornitza Stark Marked gene: POGLUT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.126 | POGLUT1 | Zornitza Stark Added comment: Comment when marking as ready: Limited evidence for bi-allelic disease or for CDG association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.126 | POGLUT1 | Zornitza Stark Gene: poglut1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.126 | POGLUT1 | Zornitza Stark Phenotypes for gene: POGLUT1 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.125 | POGLUT1 | Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.124 | POGLUT1 | Zornitza Stark Publications for gene: POGLUT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.123 | POGLUT1 | Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.122 | EOGT | Seb Lunke Marked gene: EOGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.122 | EOGT | Seb Lunke Gene: eogt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.122 | EOGT | Seb Lunke Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects to Adams-Oliver syndrome 4 (MIM #615297); scalp aplasia cutis congenita; transverse terminal limb defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.121 | POGLUT1 | Zornitza Stark Classified gene: POGLUT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.121 | POGLUT1 | Zornitza Stark Gene: poglut1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | SEC23A | Paul De Fazio reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.120 | POGLUT1 | Zornitza Stark Mode of inheritance for gene: POGLUT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.119 | POGLUT1 | Zornitza Stark Classified gene: POGLUT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.119 | POGLUT1 | Zornitza Stark Gene: poglut1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.11 | ESCO2 |
Natalie Tan gene: ESCO2 was added gene: ESCO2 was added to Radial Ray Abnormalities. Sources: NHS GMS Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to PMID: 19574259; 16380922 Phenotypes for gene: ESCO2 were set to Roberts syndrome 268300; SC phocomelia syndrome 269000 Review for gene: ESCO2 was set to GREEN Added comment: Sources: NHS GMS |
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Congenital Disorders of Glycosylation v0.118 | EOGT | Seb Lunke Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, #615297; scalp aplasia cutis congenita; transverse terminal limb defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mackenzie's Mission_Reproductive Carrier Screening v0.7 | SEC23A | Zornitza Stark reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.117 | EOGT | Seb Lunke Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.116 | SEC23A | Zornitza Stark Marked gene: SEC23A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.116 | SEC23A | Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.116 | SEC23A | Zornitza Stark Phenotypes for gene: SEC23A were changed from to Craniolenticulosutural dysplasia (MIM# 607812) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.115 | SEC23A | Zornitza Stark Publications for gene: SEC23A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.114 | SEC23A | Zornitza Stark Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.113 | SEC23A | Zornitza Stark Classified gene: SEC23A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.113 | SEC23A | Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | POFUT1 | Ain Roesley reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23684010, 29452367, 25157627; Phenotypes: Dowling-Degos disease 2 (MIM# 615327); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.112 | POFUT1 | Seb Lunke Marked gene: POFUT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.112 | POFUT1 | Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.112 | POFUT1 | Seb Lunke Mode of inheritance for gene: POFUT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.111 | POFUT1 | Seb Lunke Classified gene: POFUT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.111 | POFUT1 | Seb Lunke Gene: pofut1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.110 | SLC26A2 | Zornitza Stark Marked gene: SLC26A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.110 | SLC26A2 | Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.110 | SLC26A2 | Zornitza Stark Phenotypes for gene: SLC26A2 were changed from to Skeletal dysplasia (various) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.109 | SLC26A2 | Zornitza Stark Publications for gene: SLC26A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.108 | SLC26A2 | Zornitza Stark Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.107 | SLC26A2 | Zornitza Stark Classified gene: SLC26A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.107 | SLC26A2 | Zornitza Stark Gene: slc26a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.106 | MAGT1 | Seb Lunke Marked gene: MAGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.106 | MAGT1 | Seb Lunke Gene: magt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.5 | SUMF1 |
Crystle Lee gene: SUMF1 was added gene: SUMF1 was added to Storage Disorder. Sources: Expert Review Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUMF1 were set to 17360554; 25885655; 28566233 Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency (MIM#272200) Review for gene: SUMF1 was set to GREEN Added comment: >5 MSD patients reported. This condition is caused by defective activity of all sulfatases, most of them with lysosomal localization. Sources: Expert Review |
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Congenital Disorders of Glycosylation v0.106 | MAGT1 | Seb Lunke Publications for gene: MAGT1 were set to PMID: 31036665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.105 | MAGT1 | Seb Lunke Classified gene: MAGT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.105 | MAGT1 | Seb Lunke Gene: magt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.104 | SLC35A2 | Zornitza Stark Marked gene: SLC35A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.104 | SLC35A2 | Zornitza Stark Gene: slc35a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.104 | SLC35A2 | Zornitza Stark Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Radial Ray Abnormalities v0.11 | DACT1 |
Natalie Tan gene: DACT1 was added gene: DACT1 was added to Radial Ray Abnormalities. Sources: NHS GMS Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DACT1 were set to PMID: 28054444; 22610794; 19701191 Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2 (OMIM #617466) Review for gene: DACT1 was set to RED Added comment: Webb et al. (2017) reported 6 affected members of a 3-generation family with ?Townes-Brocks syndrome-2, identified heterozygosity for a nonsense mutation in the DACT1 gene that segregated with disease. Clinical features include imperforate anus, rectovaginal fistula, crossed fused renal ectopia, vesicoureteral reflux, unilateral microtia, overfolded helices and cupped ears. One family member (proband's mother) with scoliosis and spina bifida occulta. Neural tube defects reported in a study of human fetuses (PMID: 22610794) and a mouse model (PMID: 19701191). Listed in Decipher v10.0 for an individual with abnormalities of (i) head or neck (ii) nervous system (iii) skeletal system. Unlike the gene SALL1 that causes Townes-Brocks syndrome 1, there is no information specifically relating to DACT1 with radial dysplasia, as these were not observed in the family with ?Townes-Brocks syndrome 2 (PMID: 28054444). Sources: NHS GMS |
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Congenital Disorders of Glycosylation v0.103 | SLC35A2 | Zornitza Stark Publications for gene: SLC35A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.102 | SLC35A2 | Zornitza Stark Mode of inheritance for gene: SLC35A2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.101 | GMPPA | Seb Lunke Marked gene: GMPPA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.101 | GMPPA | Seb Lunke Gene: gmppa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.101 | GMPPA | Seb Lunke Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.100 | DSE | Zornitza Stark Marked gene: DSE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.100 | DSE | Zornitza Stark Added comment: Comment when marking as ready: Link to CDGs unclear. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.100 | DSE | Zornitza Stark Gene: dse has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.100 | DSE | Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.99 | DSE | Zornitza Stark Publications for gene: DSE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.98 | DSE | Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.97 | DSE | Zornitza Stark Classified gene: DSE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.97 | DSE | Zornitza Stark Gene: dse has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | ARSG | Zornitza Stark Marked gene: ARSG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | ARSG | Zornitza Stark Added comment: Comment when marking as ready: Additional family reported with a different variant, upgrade to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3444 | ARSG | Zornitza Stark Gene: arsg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early-onset Dementia v0.52 | CTSF |
Elena Savva gene: CTSF was added gene: CTSF was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSF were set to PMID: 28749476; 27668283; 27524508 Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362 Review for gene: CTSF was set to GREEN Added comment: OMIM: Cathepsin is a member of the papain family of cysteine proteases. These enzymes represent a major component of the lysosomal proteolytic system. PMID: 28749476 - 1 chet patient (missense, CNV) with FTD, onset at 37 years old. PMID: 27668283 - 2 families with adult-onset neuronal ceroid lipofuscinosis and FTD. Onset in 20s-30s. Light and electron microscopy shows swollen neuronal perikarya and intraneuronal storage of polymorphic lipofuscin-like inclusions PMID: 27524508 - 1 hom family (PTC) with early-onset Alzheimer disease Sources: Expert list |
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Mendeliome v0.3444 | ARSG | Zornitza Stark Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3443 | ARSG | Zornitza Stark Classified gene: ARSG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3443 | ARSG | Zornitza Stark Gene: arsg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3442 | ARSG | Zornitza Stark Tag founder tag was added to gene: ARSG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.5 | VPS33A | Crystle Lee reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.96 | G6PC3 | Belinda Chong reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 21385794; Phenotypes: Dursun syndrome 612541, Neutropenia, severe congenital 4, autosomal recessive 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Lysosomal Storage Disorder v0.5 | CTNS |
Elena Savva gene: CTNS was added gene: CTNS was added to Storage Disorder. Sources: Expert list Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to PMID: 32564281 Phenotypes for gene: CTNS were set to Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800; Cystinosis, ocular nonnephropathic 219750 Review for gene: CTNS was set to GREEN Added comment: OMIM: CTNS encodes an integral membrane protein, that has features of a lysosomal membrane protein. PMID: 32564281 - Reports many patients with biallelic variants and nephropathic cystinosis. Protein transports free cystine from lysosomes to cytoplasm, free cystine accumulates in lysosomes and forms cystine crystals that lead to tissue and organ damage. Sources: Expert list |
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Photosensitivity Syndromes v0.27 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.96 | POMK | Paul De Fazio reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 24556084, 24925318; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 (MIM #615249); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital Disorders of Glycosylation v0.96 | POGLUT1 | Ain Roesley reviewed gene: POGLUT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27807076, 24387993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696); Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.26 | ERCC2 | Zornitza Stark Marked gene: ERCC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.26 | ERCC2 | Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.26 | ERCC2 | Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Trichothiodystrophy 1, photosensitive, MIM#601675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.25 | ERCC2 | Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.24 | ERCC2 | Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 1, photosensitive, MIM#601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.24 | GTF2H5 | Zornitza Stark Marked gene: GTF2H5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.24 | GTF2H5 | Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.24 | GTF2H5 | Zornitza Stark Phenotypes for gene: GTF2H5 were changed from to Trichothiodystrophy 3, photosensitive, MIM# 616395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.23 | GTF2H5 | Zornitza Stark Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.22 | GTF2H5 | Zornitza Stark reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.22 | POLH | Zornitza Stark Marked gene: POLH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.22 | POLH | Zornitza Stark Gene: polh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.22 | POLH | Zornitza Stark Phenotypes for gene: POLH were changed from to Xeroderma pigmentosum, variant type, MIM# 278750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.21 | POLH | Zornitza Stark Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.20 | POLH | Zornitza Stark reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.20 | DHCR7 | Zornitza Stark Marked gene: DHCR7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.20 | DHCR7 | Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.20 | DHCR7 | Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM# 270400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.19 | DHCR7 | Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.18 | DHCR7 | Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM# 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.18 | DDB2 | Zornitza Stark Marked gene: DDB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.18 | DDB2 | Zornitza Stark Gene: ddb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.18 | DDB2 | Zornitza Stark Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.17 | DDB2 | Zornitza Stark Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.16 | DDB2 | Zornitza Stark reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.16 | BLM | Zornitza Stark Marked gene: BLM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.16 | BLM | Zornitza Stark Gene: blm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.16 | BLM | Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.15 | BLM | Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.14 | BLM | Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.3442 | ARSG | Elena Savva reviewed gene: ARSG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29300381, 20679209, 25452429, 26975023, 32455177; Phenotypes: Usher syndrome, type IV, MIM# 618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.14 | ADAR | Zornitza Stark Marked gene: ADAR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.14 | ADAR | Zornitza Stark Gene: adar has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.14 | ADAR | Zornitza Stark Phenotypes for gene: ADAR were changed from to Dyschromatosis symmetrica hereditaria , MIM#127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.13 | ADAR | Zornitza Stark Mode of inheritance for gene: ADAR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.12 | ADAR | Zornitza Stark Classified gene: ADAR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.12 | ADAR | Zornitza Stark Gene: adar has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Photosensitivity Syndromes v0.11 | ADAR | Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis symmetrica hereditaria , MIM#127400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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