Inherited white matter disorders
Gene: ABCD1Add 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.
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
Variants in this GENE are reported as part of current diagnostic practice
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for ABCD1 were set to 25655951; 8040304; 11810273
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
ABCD1 was added to Inherited white matter disorderspanel. Source: UKGTN
ABCD1 was added to Inherited white matter disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
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)
ABCD1 was created by ellenmcdonagh
ABCD1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen