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Adult onset hereditary spastic paraplegia v6.2 ABCD1 Arina Puzriakova Phenotypes for gene: ABCD1 were changed from spastic paraparesis; Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; Adrenoleukodystrophy, 300100 to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100; Adrenal failure; VLCFA accumulation; Spastic paraparesis
Adult onset hereditary spastic paraplegia v0.146 ABCD1 Louise Daugherty Deleted their comment
Adult onset hereditary spastic paraplegia v0.56 ABCD1 Louise Daugherty Publications for gene: ABCD1 were set to
Adult onset hereditary spastic paraplegia v0.54 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Adult onset hereditary spastic paraplegia v0.53 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.52 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; 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 hereditary spastic paraplegia v0.6 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; 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 hereditary spastic paraplegia v0.4 ABCD1 Louise Daugherty Source Expert Review Green was added to ABCD1.
Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes spastic paraparesis; Hereditary spastic paraplegia; VLCFA accumulation; adrenal failure; Adrenoleukodystrophy, 300100 for gene: ABCD1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.3 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Adult onset hereditary spastic paraplegia v0.2 ABCD1 Louise Daugherty gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ABCD1 was set to