Neonatal cholestasis

Gene: TJP2

Green List (high evidence)

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

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

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

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TJP2. Panel: Cholestasis

18 May 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to TJP2. Panel: Cholestasis Model of inheritance for gene TJP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene TJP2 were set to Neonatal and Adult Cholestasis, Cholestasis, progressive familial intrahepatic 4, 615878, Cholestasis, Progressive Familial Intrahepatic 4

18 May 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to TJP2. Panel: Cholestasis Phenotypes for gene TJP2 were set to Neonatal and Adult Cholestasis, Cholestasis, progressive familial intrahepatic 4, 615878

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TJP2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TJP2 was created by Ellen McDonagh