Peroxisomal disorders
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
4 reviews
Ellen McDonagh (Genomics England Curator)
Add the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412/Created: 12 May 2018, 9:01 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 22 Aug 2016, 9:38 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ADRENOLEUKODYSTROPHY
Publications
Variants in this GENE are reported as part of current diagnostic practice
Helen Savage (Congenica Ltd)
ALD has its own gene panel; not necessary to include this gene in the "other peroxisomal disorders" panel.Created: 23 Feb 2016, 3:14 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
X-linked Adrenoleukodystrophy; X-linked adult Adrenomyeloneuropathy
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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Adrenoleukodystrophy 300100
- Tags
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- Complete
- 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ABCD1 were set to 25655951
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ABCD1 were set to Adrenoleukodystrophy 300100
Upload gene information
Sarah Leigh (Genomics England Curator)ABCD1 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)ABCD1 was added to Peroxisomal disorderspanel. Source: Expert list
Created
Sarah Leigh (Genomics England Curator)ABCD1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)ABCD1 was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services