1. Genes and Genomic Entities
  2. TJP2

TJP2

tight junction protein 2
OMIM: 607709, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TJP2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review 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
Green TJP2 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Cholestasis, Progressive Familial Intrahepatic 4
  • Neonatal and Adult Cholestasis
  • Cholestasis, progressive familial intrahepatic 4, 615878
Red TJP2 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • hearing loss
    • Nonsyndromic Hearing Loss, Dominant
    • Cholestasis, progressive familial intrahepatic 4, 615878
    • Hypercholanemia, familial, 607748