Peroxisomal 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/412/Created: 12 May 2018, 9:01 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 22 Aug 2016, 9:38 a.m.
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
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
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Publications for ABCD1 were set to 25655951
Phenotypes for ABCD1 were set to Adrenoleukodystrophy 300100
ABCD1 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
ABCD1 was added to Peroxisomal disorderspanel. Source: Expert list
ABCD1 was created by sleigh
ABCD1 was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services