Activity

Filter

Cancel
Date Panel Item Activity
10 actions
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
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)
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