TJP2

tight junction protein 2
OMIM: 607709, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green TJP2 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Green TJP2 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878 Hypercholanemia, familial 1, MIM# 607748
Red TJP2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness
Green TJP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Red TJP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hypercholanemia, familial
Green TJP2 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Green TJP2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Red TJP2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholanemia, familial