Thoracic dystrophies
Gene: TRPV6
TRPV6 (transient receptor potential cation channel subfamily V member 6)
EnsemblGeneIds (GRCh38): ENSG00000165125
EnsemblGeneIds (GRCh37): ENSG00000165125
OMIM: 606680, Gene2Phenotype
TRPV6 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000165125
EnsemblGeneIds (GRCh37): ENSG00000165125
OMIM: 606680, Gene2Phenotype
TRPV6 is in 6 panels
1 review
Helen Brittain (Genomics England Curator)
Comment on list classification: Sufficient cases, relevant phenotype in terms of short ribs / narrow chest and neonatal respiratory distressCreated: 15 Jan 2019, 3:21 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: LiteratureCreated: 15 Jan 2019, 3:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, transient neonatal, 618188
Publications
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
- None
- 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
Helen Brittain (Genomics England Curator)gene: TRPV6 was added gene: TRPV6 was added to Thoracic dystrophies. 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 Review for gene: TRPV6 was set to GREEN