Cholestasis
Gene: ABCB11

ABCB11 (ATP binding cassette subfamily B member 11)
EnsemblGeneIds (GRCh38): ENSG00000073734
EnsemblGeneIds (GRCh37): ENSG00000073734
OMIM: 603201, Gene2Phenotype
ABCB11 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, over 20 families reported, mouse model.
Created: 29 Aug 2020, 8:25 a.m. | Last Modified: 29 Aug 2020, 8:25 a.m.

Panel Version: 0.176

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 2, MIM# 601847; Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479

Publications

Created: 29 Aug 2020, 8:25 a.m.
Last Modified: 29 Aug 2020, 8:25 a.m.
Panel version: 0.176

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

It seems that individuals with missense variants develop the benign phenotype, whereas the progressive seems to be associated with at least one null allele (PMID: 23141890, NIH website).
Created: 21 May 2020, 1:31 a.m. | Last Modified: 21 May 2020, 1:31 a.m.

Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, benign recurrent intrahepatic, 2 605479 AR; Cholestasis, progressive familial intrahepatic 2 601847 AR

Publications

23141890

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 May 2020, 1:31 a.m.
Last Modified: 21 May 2020, 1:31 a.m.
Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR
Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR

OMIM

603201

Clinvar variants

Variants in ABCB11

Penetrance

None

Publications

Panels with this gene