Childhood onset hereditary spastic paraplegia
Gene: ABCD1
Males and females affected; childhood onset and adult onsetCreated: 3 May 2019, 12:49 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
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.Created: 9 May 2019, 4:54 p.m.
victoria-Also childhood . Several publications,Ion Shefflieds HSP panelCreated: 28 Apr 2019, 4:16 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
Onset ranges from childhood to adulthoodCreated: 25 Feb 2019, 11:20 a.m.
Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.Created: 7 Jan 2019, 2:34 p.m.
Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273
Source Yorkshire and North East GLH was added to ABCD1.
Source NHS GMS was added to ABCD1.
Source London North GLH was added to ABCD1.
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)
Rebecca Foulger: Comment on list classification
Publications for gene: ABCD1 were set to
Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis
Gene: abcd1 has been classified as Green List (High Evidence).
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