Neonatal cholestasis
Gene: ABCC2

ABCC2 (ATP binding cassette subfamily C member 2)
EnsemblGeneIds (GRCh38): ENSG00000023839
EnsemblGeneIds (GRCh37): ENSG00000023839
OMIM: 601107, Gene2Phenotype
ABCC2 is in 2 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:23 p.m.

Created: 25 Jul 2018, 2:23 p.m.

Panel version: 0.156

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 10 neonatal/infantile cases reported, and a green review.
Created: 25 Jul 2018, 10:52 a.m.

Comment on publications: PMID: 29499989 - all 10 pateints with neonatal Dubin-Johnson syndrome had cholestasis, and homozygous or compound heterozygous pathogenic variants in ABCC2 were identified in all patients.
Created: 25 Jul 2018, 10:48 a.m.

Comment on list classification: Cholestasis is a feature of Dubin-Johnson syndrome.
Created: 25 Jul 2018, 10:38 a.m.

Created: 25 Jul 2018, 10:38 a.m.

Panel version: 0.63

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; intrahepatic cholestasis of pregnancy; modifier in biliary atresia; Dubin Johnson syndrome

Created: 16 Jun 2018, 8:55 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Emory Genetics Laboratory

Phenotypes

Dubin-Johnson syndrome, 237500
Cholestasis
intrahepatic cholestasis of pregnancy
modifier in biliary atresia
Dubin Johnson syndrome

OMIM

601107

Clinvar variants

Variants in ABCC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, 237500; Cholestasis; intrahepatic cholestasis of pregnancy; modifier in biliary atresia; Dubin Johnson syndrome

25 Jul 2018, Gel status: 3