Liver Failure_Paediatric
Gene: TJP2EnsemblGeneIds (GRCh38): ENSG00000119139
EnsemblGeneIds (GRCh37): ENSG00000119139
OMIM: 607709, Gene2Phenotype
TJP2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Early childhood onset of severe progressive liver disease. At leat 20 unrelated families reported.
Sources: Expert listCreated: 2 Nov 2020, 11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cholestasis, progressive familial intrahepatic 4, MIM# 615878
- OMIM
- 607709
- Clinvar variants
- Variants in TJP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tjp2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tjp2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TJP2 was added gene: TJP2 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TJP2 were set to 24614073; 25921221; 31696999 Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Review for gene: TJP2 was set to GREEN