Skeletal dysplasia
Gene: TRPV6

TRPV6 (transient receptor potential cation channel subfamily V member 6)
EnsemblGeneIds (GRCh38): ENSG00000165125
EnsemblGeneIds (GRCh37): ENSG00000165125
OMIM: 606680, Gene2Phenotype
TRPV6 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants: Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally, with most patients showing complete resolution of skeletal abnormalities by 2 years of age. At least 6 unrelated families reported.

Mono-allelic variants: 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.
Created: 24 May 2021, 10:19 p.m. | Last Modified: 24 May 2021, 10:19 p.m.

Panel Version: 0.7667

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, transient neonatal, MIM# 618188; Early onset chronic pancreatitis susceptibility

Publications

Created: 24 May 2021, 10:19 p.m.
Last Modified: 24 May 2021, 10:19 p.m.
Panel version: Imported from Mendeliome panel version 0.7667

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Literature
Victorian Clinical Genetics Services

Phenotypes

Hyperparathyroidism, transient neonatal, 618188

OMIM

606680

Clinvar variants

Variants in TRPV6

Penetrance

None

Publications

29861107

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPV6 was added gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature,Expert Review Green Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188

Skeletal dysplasia Gene: TRPV6