Cholestasis
Gene: TJP2

TJP2 (tight junction protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119139
EnsemblGeneIds (GRCh37): ENSG00000119139
OMIM: 607709, Gene2Phenotype
TJP2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Early childhood onset of severe progressive liver disease. At leat 20 unrelated families reported.
Created: 2 Nov 2020, 11:02 p.m. | Last Modified: 2 Nov 2020, 11:02 p.m.

Panel Version: 0.186

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis, progressive familial intrahepatic 4, MIM# 615878

Publications

Created: 2 Nov 2020, 11:02 p.m.
Last Modified: 2 Nov 2020, 11:02 p.m.
Panel version: 0.186

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cholestasis, progressive familial intrahepatic 4, MIM# 615878

OMIM

607709

Clinvar variants

Variants in TJP2

Penetrance

None

Publications

Panels with this gene