Neonatal cholestasis
Gene: TJP2

TJP2 (tight junction protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119139
EnsemblGeneIds (GRCh37): ENSG00000119139
OMIM: 607709, Gene2Phenotype
TJP2 is in 3 panels

2 reviews

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive familial intrahepatic cholestasis type 4

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

Created: 16 Jun 2018, 5:20 p.m.

Panel version: 0.18

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

rare gene; in our cohort 1 diagnosis in ~150 patients tested
Created: 4 Jun 2018, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis

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

Created: 4 Jun 2018, 12:12 p.m.

Panel version: 0.18

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
UKGTN
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Neonatal and Adult Cholestasis
Cholestasis, progressive familial intrahepatic 4, 615878
Cholestasis, Progressive Familial Intrahepatic 4

OMIM

607709

Clinvar variants

Variants in TJP2

Penetrance

None

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

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tjp2 has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 3