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| Additional findings_Paediatric v0.243 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706; 33938610 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID Review for gene: CEP83 was set to GREEN Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis. PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. Sources: Expert Review |
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| Additional findings_Paediatric v0.204 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 Review for gene: AP4B1 was set to GREEN Added comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported. Sources: Expert Review |
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| Additional findings_Paediatric v0.202 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 Review for gene: AP4E1 was set to GREEN Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported. Sources: Expert Review |
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| Additional findings_Paediatric v0.101 | GATA2 |
Lilian Downie gene: GATA2 was added gene: GATA2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to PMID: 25397911, 30047422 Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038 Review for gene: GATA2 was set to AMBER Added comment: Gene not curated by Babyseq, included in NC NEXUS. This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Allelic disease with phenotypic overalp lymphoedema with SNHL (Emberger syndrome). Onset of immunodeficiency may not be until later childhood early adulthood. Sources: Expert list |
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| Additional findings_Paediatric v0.75 | IYD | Zornitza Stark Added comment: Comment when marking as ready: More than 4 families reported, treatable disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.68 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.36 | RYR1 | Zornitza Stark Phenotypes for gene: RYR1 were changed from Centronuclear myopathy; Congenital fiber type disproportion; Multiminicore disease; Central core disease; Malignant hyperthermia to Malignant hyperthermia, multiminicore disease MIM#180901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | PYGM |
Lilian Downie gene: PYGM was added gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455 Review for gene: PYGM was set to GREEN Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria Not reviewed by Babyseq, included in NCNEXUS newborn screening list. Actionable by controlled physical activity and programmed glucose intake. Sources: Expert list |
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| Additional findings_Paediatric v0.2 | SLC9A3R1 |
Zornitza Stark gene: SLC9A3R1 was added gene: SLC9A3R1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
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| Additional findings_Paediatric v0.2 | SLC16A1 |
Zornitza Stark gene: SLC16A1 was added gene: SLC16A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency |
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| Additional findings_Paediatric v0.2 | RYR1 |
Zornitza Stark Source BabySeq Category C gene was added to RYR1. Source Expert Review Red was added to RYR1. Mode of inheritance for gene RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital fiber type disproportion for gene: RYR1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | PPOX |
Zornitza Stark gene: PPOX was added gene: PPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPOX were set to Porphyria variegata |
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| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Congenital fiber type disproportion for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MAPT |
Zornitza Stark gene: MAPT was added gene: MAPT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism |
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| Additional findings_Paediatric v0.2 | LGI1 |
Zornitza Stark gene: LGI1 was added gene: LGI1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LGI1 were set to Epilepsy, familial temporal lobe, 1 |
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| Additional findings_Paediatric v0.2 | HMBS |
Zornitza Stark gene: HMBS was added gene: HMBS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HMBS were set to Porphyria, acute intermittent |
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| Additional findings_Paediatric v0.2 | GATA1 |
Zornitza Stark Source BabySeq Category C gene was added to GATA1. Source Expert Review Red was added to GATA1. Added phenotypes Porphyria, congenital erythropoietic for gene: GATA1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | CPOX |
Zornitza Stark gene: CPOX was added gene: CPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CPOX were set to Coproporphyria |
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| Additional findings_Paediatric v0.2 | ACTA1 |
Zornitza Stark Source BabySeq Category C gene was added to ACTA1. Source Expert Review Red was added to ACTA1. Added phenotypes Congenital myopathy with fiber type disproportion for gene: ACTA1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | VCP |
Zornitza Stark gene: VCP was added gene: VCP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia |
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| Additional findings_Paediatric v0.2 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic |
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| Additional findings_Paediatric v0.2 | UROD |
Zornitza Stark gene: UROD was added gene: UROD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic |
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| Additional findings_Paediatric v0.2 | TPM3 | Zornitza Stark Added phenotypes Congenital fiber-type disproportion myopathy for gene: TPM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | SELENON |
Zornitza Stark gene: SELENON was added gene: SELENON was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion; Muscular dystrophy, rigid spine |
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| Additional findings_Paediatric v0.2 | PORCN |
Zornitza Stark gene: PORCN was added gene: PORCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PORCN were set to Focal dermal hypoplasia |
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| Additional findings_Paediatric v0.2 | POR |
Zornitza Stark gene: POR was added gene: POR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome |
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| Additional findings_Paediatric v0.2 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome |
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| Additional findings_Paediatric v0.2 | COL4A5 | Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | COL4A4 | Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | COL4A3 | Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | COL4A5 |
Zornitza Stark gene: COL4A5 was added gene: COL4A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: COL4A5 were set to Alport syndrome |
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| Additional findings_Paediatric v0.0 | COL4A4 |
Zornitza Stark gene: COL4A4 was added gene: COL4A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to Alport syndrome |
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| Additional findings_Paediatric v0.0 | COL4A3 |
Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL4A3 were set to Alport syndrome |
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