Cholestasis
Gene: TJP2
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jan 2019, 10:42 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: TJP2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
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
rare gene; in our cohort 1 diagnosis in ~150 patients testedCreated: 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
Gene: tjp2 has been classified as Green List (High Evidence).
Source Other was added to TJP2. Mode of inheritance for gene TJP2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cholestasis, Progressive Familial Intrahepatic 4; Neonatal and Adult Cholestasis; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
Source Expert Review Green was added to TJP2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TJP2 was added gene: TJP2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: TJP2 was set to