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| Osteogenesis imperfecta v1.19 | TRPV6 | Duncan Baker edited their review of gene: TRPV6: Added comment: Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties.; Changed phenotypes: hyperparathyroidism and metabolic bone disease 618188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.18 | TRPV6 | Eleanor Williams reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.17 | TRPV6 |
Eleanor Williams Source NHS GMS was added to TRPV6. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Osteogenesis imperfecta v1.16 | TRPV6 | Duncan Baker reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29861107; Phenotypes: hyperparathyroidism and metabolic bone disease. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.16 | TRPV6 | Helen Brittain Marked gene: TRPV6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.16 | TRPV6 | Helen Brittain Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.16 | TRPV6 | Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.16 | TRPV6 | Helen Brittain Classified gene: TRPV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.16 | TRPV6 | Helen Brittain Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.16 | TRPV6 | Helen Brittain Gene: trpv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v1.15 | TRPV6 |
Helen Brittain 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 Added comment: 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 |
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