Hereditary neuropathy or pain disorder
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
Numerous reports of ABCD1 variants being associated with OMIM:300100 (24480483; 7904210;7811247;8535452).Created: 22 Oct 2024, 9:07 a.m. | Last Modified: 22 Oct 2024, 9:07 a.m.
Panel Version: 5.38
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
Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544
Publications
Alexander Rossor (UCL Institute of Neurology)
Peripheral neuropathy in 50% female carriers
Sources: Expert listCreated: 10 Oct 2024, 1:07 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
adreno leukodystrophy; adrenomyeloneuropathy
Publications
- https://doi.org/10.1093/brain/awt361
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
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Adrenoleukodystrophy, OMIM:300100
- Adrenoleukodystrophy, adult, OMIM:300100
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- Complete
- Publications
-
- https://doi.org/10.1093/brain/awt361
- Panels with this gene
-
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Congenital adrenal hypoplasia
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544 to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ABCD1. Tag Q3_24_NHS_review was removed from gene: ABCD1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ABCD1. Source Expert Review Green was added to ABCD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ABCD1 were changed from adreno leukodystrophy; adrenomyeloneuropathy to Adrenoleukodystrophy, OMIM:300100; Adrenomyeloneuropathy, adult, OMIM:300100; adrenoleukodystrophy, MONDO:0018544
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ABCD1. Tag Q3_24_NHS_review tag was added to gene: ABCD1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: abcd1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: ABCD1 was added gene: ABCD1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list 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) Publications for gene: ABCD1 were set to https://doi.org/10.1093/brain/awt361 Phenotypes for gene: ABCD1 were set to adreno leukodystrophy; adrenomyeloneuropathy Penetrance for gene: ABCD1 were set to Complete Review for gene: ABCD1 was set to GREEN