Peroxisomal disorders

Gene: ABCD1

Green List (high evidence)

ABCD1 (ATP binding cassette subfamily D member 1)
EnsemblGeneIds (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 reported
Created: 22 Aug 2016, 9:38 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

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)

Red List (low evidence)

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
gene-therapy-trial
OMIM
300371
Clinvar variants
Variants in ABCD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ABCD1 were set to 25655951

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ABCD1 were set to Adrenoleukodystrophy 300100

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ABCD1 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ABCD1 was added to Peroxisomal disorderspanel. Source: Expert list

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ABCD1 was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ABCD1 was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services