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Hereditary spastic paraplegia, childhood onset v8.2 ABCD1 Arina Puzriakova Phenotypes for gene: ABCD1 were changed from spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100; Adrenal failure; VLCFA accumulation; Spastic paraparesis
Hereditary spastic paraplegia, childhood onset v1.164 ABCD1 Louise Daugherty Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273
Hereditary spastic paraplegia, childhood onset v1.163 ABCD1 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.75 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Hereditary spastic paraplegia, childhood onset v1.74 ABCD1 Louise Daugherty commented on gene: ABCD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Hereditary spastic paraplegia, childhood onset v1.73 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
Hereditary spastic paraplegia, childhood onset v1.48 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.6 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)
Hereditary spastic paraplegia, childhood onset v1.5 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Hereditary spastic paraplegia, childhood onset v1.4 ABCD1 Louise Daugherty Source London North GLH was added to ABCD1.
Hereditary spastic paraplegia, childhood onset v1.3 ABCD1 Louise Daugherty Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1
Publications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v1.0 ABCD1 Arianna Tucci commented on gene: ABCD1
Hereditary spastic paraplegia, childhood onset v0.32 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to
Hereditary spastic paraplegia, childhood onset v0.31 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis
Hereditary spastic paraplegia, childhood onset v0.30 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Hereditary spastic paraplegia, childhood onset v0.30 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Hereditary spastic paraplegia, childhood onset v0.30 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary spastic paraplegia, childhood onset v0.6 ABCD1 Sarah Leigh gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia