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Adult onset leukodystrophy v1.31 | CLCN2 | Arina Puzriakova Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651 to Leukoencephalopathy with ataxia, OMIM:615651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.19 | CLCN2 | David Lynch reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.15 | CLCN2 |
Catherine Snow Mode of inheritance for gene CLCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukoencephalopathy with ataxia, 615651 for gene: CLCN2 |
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Adult onset leukodystrophy v0.14 | CLCN2 | Catherine Snow reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.10 | CLCN2 | Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.9 | CLCN2 | Ian Berry reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.8 | CLCN2 | Louise Daugherty Publications for gene CLCN2 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.7 | CLCN2 |
Louise Daugherty Source Expert Review Green was added to CLCN2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Adult onset leukodystrophy v0.6 | CLCN2 | Louise Daugherty Source NHS GMS was added to CLCN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset leukodystrophy v0.5 | CLCN2 |
Louise Daugherty gene: CLCN2 was added gene: CLCN2 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CLCN2 was set to |