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Newborns main panel

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

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 24614073 (8 families), PMID: 38090248 (1 case), PMID: 29238877 (3 cases), PMID: 38447037 - 44 cases
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:28 p.m.
Last Modified: 31 Dec 2025, 2:28 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cholestasis, progressive familial intrahepatic 4
OMIM
607709
Clinvar variants
Variants in TJP2
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: TJP2 was added gene: TJP2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4