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  3. ABCC2
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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 2 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:27 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ABCC2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.
Created: 7 Jan 2019, 4:42 p.m.

Panel version: 0.3

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: Imported from Neonatal cholestasis 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: Imported from Neonatal cholestasis 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: Imported from Neonatal cholestasis panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • modifier in biliary atresia
  • Dubin Johnson syndrome
  • Cholestasis
  • intrahepatic cholestasis of pregnancy
  • Dubin-Johnson syndrome, 237500
OMIM
601107
Clinvar variants
Variants in ABCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Other was added to ABCC2. Mode of inheritance for gene ABCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes modifier in biliary atresia; Dubin Johnson syndrome; Cholestasis; intrahepatic cholestasis of pregnancy; Dubin-Johnson syndrome, 237500 for gene: ABCC2 Publications for gene ABCC2 were changed from to 11477083; 21044052; 9425227; 29499989; 12942343; 10053008; 29707407

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ABCC2. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ABCC2 was added gene: ABCC2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ABCC2 was set to