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Adult onset leukodystrophy v0.19 | COL4A1 | David Lynch reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.15 | COL4A1 |
Catherine Snow Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780 for gene: COL4A1 |
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Adult onset leukodystrophy v0.14 | COL4A1 | Catherine Snow reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.10 | COL4A1 | Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.9 | COL4A1 | Ian Berry reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.8 | COL4A1 | Louise Daugherty Publications for gene COL4A1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.7 | 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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Adult onset leukodystrophy v0.6 | COL4A1 | Louise Daugherty Source NHS GMS was added to COL4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.5 | COL4A1 |
Louise Daugherty gene: COL4A1 was added gene: COL4A1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: COL4A1 was set to |