Osteogenesis imperfecta
Gene: TRPV6
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TRPV6 ; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties.Created: 3 Apr 2019, 4:14 p.m.
Could present similarly to OI.Created: 25 Jan 2019, 9:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hyperparathyroidism and metabolic bone disease 618188
Publications
Comment when marking as ready: Sufficient cases. Phenotype (antenatal detection of narrow chest, fractures and bowed femora) is within the spectrum of presentation with OI. Therefore appropriate for inclusion.Created: 15 Jan 2019, 3:25 p.m.
Comment on list classification: Sufficient cases. Presenting with antenatal detection of narrow chest, bowed femora and fractures therefore within the spectrum of OI presentation and could mimic this. Appropriate for inclusion.Created: 15 Jan 2019, 3:24 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, 3:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, transient neonatal, 618188
Publications
Source NHS GMS was added to TRPV6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: trpv6 has been classified as Green List (High Evidence).
Gene: trpv6 has been classified as Green List (High Evidence).
gene: TRPV6 was added gene: TRPV6 was added to Osteogenesis imperfecta. 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