Pancreatitis
Gene: TRPV6EnsemblGeneIds (GRCh38): ENSG00000165125
EnsemblGeneIds (GRCh37): ENSG00000165125
OMIM: 606680, Gene2Phenotype
TRPV6 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Two studies identified a significant over-representation of loss of function, mainly missense variants (tested in in vitro functional assays) in chronic pancreatitis cases compared to controls in Japanese, European, and Chinese cohorts. There was also a supporting mouse model.
Sources: LiteratureCreated: 31 Jul 2020, 3:48 a.m. | Last Modified: 31 Jul 2020, 3:59 a.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early onset chronic pancreatitis susceptibility
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Early onset chronic pancreatitis susceptibility
- OMIM
- 606680
- Clinvar variants
- Variants in TRPV6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: trpv6 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: trpv6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TRPV6 was added gene: TRPV6 was added to Pancreatitis. Sources: Literature Mode of inheritance for gene: TRPV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV6 were set to 32383311; 31930989 Phenotypes for gene: TRPV6 were set to Early onset chronic pancreatitis susceptibility Review for gene: TRPV6 was set to GREEN