Pancreatitis

Gene: TRPV6

Amber List (moderate evidence)

TRPV6 (transient receptor potential cation channel subfamily V member 6)
EnsemblGeneIds (GRCh38): ENSG00000165125
EnsemblGeneIds (GRCh37): ENSG00000165125
OMIM: 606680, Gene2Phenotype
TRPV6 is in 7 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Miranda Durkie. Based on the expert review this gene was added as an Amber gene.
Created: 5 Oct 2020, 2:11 p.m. | Last Modified: 5 Oct 2020, 2:11 p.m.
Panel Version: 2.6

Miranda Durkie (Genetics)

I don't know

PMID: 31930989: Heterozygous variants that affected function of the TRPV6 protein statistically over represented in cases vs controls (300 cases from Japan, 470 from France, 410 from Germany & >1000 controls). Variants that affected function of the TRPV6 product were found in 13 of 300 patients (4.3%) and 1 of 1070 control individuals (0.1%) from Japan (odds ratio [OR], 48.4; 95% confidence interval [CI], 6.3–371.7; P ¼ 2.4 10–8). Twelve of 124 patients (9.7%) with early-onset CP had such variants. In the replication set from Europe, 18 patients with CP (2.0%) carried variants that affected the function of the TRPV6 product compared with 0 control individuals (P ¼ 6.2 10–8). Homozygous mouse model given cerulein developed more severe pancreatitis than control mice (although homozygous / compound heterozygous disease in humans associated with transient neonatal hyperparathyroidism (OMIM 618188) with no reported pancreatitis). Also reported 20% had trans-heterozygous SPINK1 pathogenic variants.
PMID: 32383311: Chinese case control study of 669 cases and 609 controls showed over represented of confirmed loss of function alleles (9/669 [1.35%] vs. 1/609 [0.16%]; odds ratio = 8.29; p = .022).
Hypothesised treatment with Vitamin D may be beneficial.
Likely susceptibility allele therefore amber rating currently
Sources: Literature
Created: 30 Jul 2020, 11:54 a.m.

Mode of inheritance
Unknown

Phenotypes
Chronic pancreatitis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Chronic pancreatitis
OMIM
606680
Clinvar variants
Variants in TRPV6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

5 Oct 2020, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: TRPV6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trpv6 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TRPV6 were set to PMID: 31930989; 32383311

30 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Miranda Durkie (Genetics)

gene: TRPV6 was added gene: TRPV6 was added to Pancreatitis. Sources: Literature Mode of inheritance for gene: TRPV6 was set to Unknown Publications for gene: TRPV6 were set to PMID: 31930989; 32383311 Phenotypes for gene: TRPV6 were set to Chronic pancreatitis Penetrance for gene: TRPV6 were set to unknown Review for gene: TRPV6 was set to AMBER