Inherited white matter disorders
Gene: ABCD1EnsemblGeneIds (GRCh38): ENSG00000101986
EnsemblGeneIds (GRCh37): ENSG00000101986
OMIM: 300371, Gene2Phenotype
ABCD1 is in 16 panels
3 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/412Created: 12 May 2018, 9:02 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for Adrenoleukodystrophy, X-linked multiple cases and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 5 Aug 2016, 9:50 a.m.
Ian Berry (Leeds Genetics Laboratory)
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
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_604
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 1:18 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 1:16 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Adrenoleukodystrophy, OMIM:300100
- Adrenoleukodystrophy, adult, OMIM:300100
- Tags
- OMIM
- 300371
- Clinvar variants
- Variants in ABCD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Adult onset leukodystrophy
- Congenital adrenal hypoplasia
- Likely inborn error of metabolism
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy, 300100; Adrenomyeloneuropathy, adult, 300100; X-Linked Adrenoleukodystrophy; Adrenoleukodystrophy, X-linked; Adrenoleukodystrophy to Adrenoleukodystrophy, OMIM:300100; Adrenoleukodystrophy, adult, OMIM:300100
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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; 8040304; 11810273
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ABCD1 was added to Inherited white matter disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ABCD1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)ABCD1 was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory Model 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)
Created
Ellen McDonagh (Genomics England Curator)ABCD1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ABCD1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen