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Mendeliome

Gene: TRPV6

Green List (high evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM# 618188
  • Early onset chronic pancreatitis susceptibility
OMIM
606680
Clinvar variants
Variants in TRPV6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpv6 has been classified as Green List (High Evidence).

24 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRPV6 were changed from to Hyperparathyroidism, transient neonatal, MIM# 618188; Early onset chronic pancreatitis susceptibility

24 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPV6 were set to

24 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRPV6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPV6 was added gene: TRPV6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRPV6 was set to Unknown