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Adult onset leukodystrophy v5.4 ABCD1 Arina Puzriakova Tag Q3_24_NHS_review was removed from gene: ABCD1.
Tag Q3_24_MOI was removed from gene: ABCD1.
Adult onset leukodystrophy v5.4 ABCD1 Arina Puzriakova reviewed gene: ABCD1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v5.3 ABCD1 Arina Puzriakova Mode of inheritance for gene ABCD1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Tag Q3_24_MOI tag was added to gene: ABCD1.
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v5.2 ABCD1 Sarah Leigh Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 to Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, OMIM:300100
Adult onset leukodystrophy v5.1 ABCD1 Lucy Jackson reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset leukodystrophy v0.19 ABCD1 David Lynch reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.15 ABCD1 Catherine Snow Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 for gene: ABCD1
Adult onset leukodystrophy v0.14 ABCD1 Catherine Snow reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.10 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v0.9 ABCD1 Ian Berry reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28334938, 25527826, 27159321, 24357685, 20301621; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset leukodystrophy v0.8 ABCD1 Louise Daugherty Publications for gene ABCD1 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v0.7 ABCD1 Louise Daugherty Source Expert Review Green was added to ABCD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset leukodystrophy v0.6 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Adult onset leukodystrophy v0.5 ABCD1 Louise Daugherty gene: ABCD1 was added
gene: ABCD1 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: ABCD1 was set to