Neonatal cholestasis

Gene: ABCC2

Green List (high evidence)

ABCC2 (ATP binding cassette subfamily C member 2)
EnsemblGeneIds (GRCh38): ENSG00000023839
EnsemblGeneIds (GRCh37): ENSG00000023839
OMIM: 601107, Gene2Phenotype
ABCC2 is in 3 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.

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcc2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcc2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCC2 were set to 9425227; 10053008; 12942343; 21044052; 11477083; 11477083; 11477083; 29707407; 29499989

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCC2 were set to 9425227; 10053008; 12942343; 21044052; 11477083; 11477083; 11477083; 29707407

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ABCC2 were set to 9425227; 10053008; 12942343; 21044052; 11477083; 11477083; 11477083

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: abcc2 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome 237500

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ABCC2. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

ABCC2 was created by Ellen McDonagh