Activity
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6 actions
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| Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Classified gene: TRPV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "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". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Gene: trpv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.325 | TRPV6 | Rebecca Foulger Classified gene: TRPV6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.325 | TRPV6 | Rebecca Foulger Gene: trpv6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.324 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to Fetal anomalies. 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 Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188 Review for gene: TRPV6 was set to AMBER Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Sources: Literature |
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