Adult onset hereditary spastic paraplegia
Gene: ABCD1
Males and females affected; childhood onset and adult onsetCreated: 3 May 2019, 12:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 9 May 2019, 4:50 p.m.
victoria-Also childhood . Several publications,Ion Shefflieds HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis; Adrenoleukodystrophy, 300100
Publications for gene: ABCD1 were set to
Source Yorkshire and North East GLH was added to ABCD1.
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)
Source NHS GMS was added to ABCD1.
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