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  3. TRPV6
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Fetal anomalies

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: 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: 0.1868

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM#618188
OMIM
606680
Clinvar variants
Variants in TRPV6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRPV6 were changed from Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism to Hyperparathyroidism, transient neonatal, MIM#618188

6 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPV6 were set to 29861107

6 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

6 Jan 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

6 Jan 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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; Transient Neonatal Hyperparathyroidism