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| 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 v0.228 | PTHLH | Rebecca Foulger edited their review of gene: PTHLH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.153 | PTH1R | Rebecca Foulger edited their review of gene: PTH1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTHLH | Rebecca Foulger commented on gene: PTHLH: DDG2P rating in original PAGE list: Confirmed for CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS, and Confirmed for BRACHYDACTYLY, TYPE E2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTH1R | Rebecca Foulger commented on gene: PTH1R: DDG2P rating in original PAGE list: Confirmed for PRIMARY FAILURE OF TOOTH ERUPTION, Confirmed for JANSEN METAPHYSEAL CHONDRODYSPLASIA, Confirmed for EIKEN SKELETAL DYSPLASIA, and Confirmed for CHONDRODYSPLASIA BLOMSTRAND TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PTH | Rebecca Foulger reviewed gene: PTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PTH1R | Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PTHLH | Rebecca Foulger reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTHLH | Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE E2 for gene: PTHLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTHLH |
Rebecca Foulger gene: PTHLH was added gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS |
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| Fetal anomalies v0.1 | PTH1R | Rebecca Foulger Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE for gene: PTH1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTH1R | Rebecca Foulger Added phenotypes EIKEN SKELETAL DYSPLASIA for gene: PTH1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTH1R | Rebecca Foulger Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA for gene: PTH1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION |
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| Fetal anomalies v0.1 | PTH |
Rebecca Foulger gene: PTH was added gene: PTH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM |
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