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  2. Neonatal cholestasis
  3. ABCD3
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Neonatal cholestasis

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: 21 Aug 2018, 1:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 5 616278

Publications

Created: 21 Aug 2018, 1:12 p.m.

Panel version: 0.381

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bile acid synthesis defect, congenital, 5 616278
OMIM
170995
Clinvar variants
Variants in ABCD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

21 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: abcd3 has been classified as Red List (Low Evidence).

21 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ABCD3 was added to Neonatal cholestasis panel. Sources: Literature

21 Aug 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ABCD3 was created by Sarah Leigh