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Peroxisomal disorders

Gene: ABCD3

Red List (low evidence)
ABCD3 (ATP binding cassette subfamily D member 3)
EnsemblGeneIds (GRCh38): ENSG00000117528
EnsemblGeneIds (GRCh37): ENSG00000117528
OMIM: 170995, Gene2Phenotype
ABCD3 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. One homozygous patient identified. In Abcd3-/- mice, there was evidence of a bile acid biosynthesis defect.
Created: 23 Aug 2016, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 5 616278

Publications

Created: 23 Aug 2016, 8:09 a.m.

Panel version: 0.58

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Bile acid synthesis defect, congenital, 5 616278
OMIM
170995
Clinvar variants
Variants in ABCD3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ABCD3 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory

23 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ABCD3 was created by sleigh