Cholestasis
Gene: ABCC2
ABCC2 (ATP binding cassette subfamily C member 2)
EnsemblGeneIds (GRCh38): ENSG00000023839
EnsemblGeneIds (GRCh37): ENSG00000023839
OMIM: 601107, Gene2Phenotype
ABCC2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000023839
EnsemblGeneIds (GRCh37): ENSG00000023839
OMIM: 601107, Gene2Phenotype
ABCC2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Conjugated hyperbilirubinaemia is a key feature.Created: 9 Aug 2021, 11:06 a.m. | Last Modified: 9 Aug 2021, 11:06 a.m.
Panel Version: 0.197
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dubin-Johnson syndrome, MIM# 237500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dubin-Johnson syndrome, MIM# 237500
- OMIM
- 601107
- Clinvar variants
- Variants in ABCC2
- Penetrance
- None
- Panels with this gene
History Filter Activity
9 Aug 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: abcc2 has been classified as Green List (High Evidence).
9 Aug 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ABCC2 were changed from to Dubin-Johnson syndrome, MIM# 237500
9 Aug 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ABCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ABCC2 was added gene: ABCC2 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCC2 was set to Unknown