Childhood onset hereditary spastic paraplegia
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
5 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
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
- 61263
- 17372139
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
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.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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
Arianna Tucci (Genomics England Curator)
Onset ranges from childhood to adulthoodCreated: 25 Feb 2019, 11:20 a.m.
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Literature
- Phenotypes
-
- Adrenoleukodystrophy, OMIM:300100
- Adrenoleukodystrophy, adult, OMIM:300100
- Adrenal failure
- VLCFA accumulation
- Spastic paraparesis
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Likely inborn error of metabolism
- Inherited white matter disorders
- Adult onset leukodystrophy
- Congenital adrenal hypoplasia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ABCD1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ABCD1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to ABCD1.
Set Phenotypes, Set publications, Status Update
Louise Daugherty (Genomics England Curator)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)
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: ABCD1 were set to
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: abcd1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)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