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  3. TRPV6
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Calcium and Phosphate disorders

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

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
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM# 618188
OMIM
606680
Clinvar variants
Variants in TRPV6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 May 2023, Gel status: 1

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 Calcium and Phosphate disorders. Sources: Other Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 31930989; 29861107 Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, MIM# 618188