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Severe Paediatric Disorders v0.17 | COL4A1 | Louise Daugherty Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | COL4A1 | Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | COL4A1 | Louise Daugherty Publications for gene COL4A1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | COL4A1 | Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL4A1 | Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL4A1 | Louise Daugherty Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564; Brain small vessel disease with or without ocular anomalies, 175780; ?Retinal arteries, tortuosity of, 180000 for gene: COL4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | COL4A1 | Louise Daugherty Added phenotypes ?Retinal arteries, tortuosity of, 180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 for gene: COL4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | COL4A1 | Louise Daugherty Source Next Generation Children Project was added to COL4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | COL4A1 |
Louise Daugherty Source Expert Review Green was added to COL4A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | COL4A1 |
Louise Daugherty gene: COL4A1 was added gene: COL4A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL4A1 was set to |