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  3. TRPV6
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Skeletal Dysplasia_Fetal

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The bi-allleic disorder is pertinent to this panel.
Created: 6 Jan 2022, 5:28 a.m. | Last Modified: 6 Jan 2022, 5:28 a.m.
Panel Version: 0.1896

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, transient neonatal, MIM# 618188

Created: 6 Jan 2022, 5:27 a.m.
Last Modified: 6 Jan 2022, 5:27 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1896

Alison Yeung (Victorian Clinical Genetics Services)

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.

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: 6 Jan 2022, 2:30 a.m. | Last Modified: 6 Jan 2022, 2:30 a.m.
Panel Version: 0.1868

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jan 2022, 2:30 a.m.
Last Modified: 6 Jan 2022, 2:30 a.m.
Panel version: Imported from Fetal anomalies panel version 0.1868

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
606680
Clinvar variants
Variants in TRPV6
Penetrance
None
Panels with this gene

History Filter Activity

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 Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRPV6 was set to Unknown