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| 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 | 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 v0.3 | PTH1R | Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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