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Skeletal dysplasia

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 6 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient cases, relevant phenotype. Therefore considered green. Also I will add it to the thoracic dystrophies and OI panels in view of the presentation with small chest / respiratory distress and fractures.
Created: 15 Jan 2019, 3:18 p.m.
Comment on list classification: Sufficient cases, relevant phenotype
Created: 15 Jan 2019, 3:16 p.m.
6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. All affected individuals experienced postnatal respiratory difficulties requiring ventilatory support in the first few weeks to months of life. In addition, most showed poor feeding, with some requiring tube feeding.
Sources: Literature
Created: 15 Jan 2019, 3:10 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, transient neonatal, 618188

Publications

Created: 15 Jan 2019, 3:10 p.m.

Panel version: 1.139

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperparathyroidism, transient neonatal, 618188
OMIM
606680
Clinvar variants
Variants in TRPV6
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

15 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

15 Jan 2019, Gel status: 1

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

Helen Brittain (Genomics England Curator)

gene: TRPV6 was added gene: TRPV6 was added to Skeletal dysplasia. Sources: Literature 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 Penetrance for gene: TRPV6 were set to unknown Review for gene: TRPV6 was set to GREEN