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Fetal anomalies v0.150 | PITX2 | Rebecca Foulger edited their review of gene: PITX2: 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 | PITX2 | Rebecca Foulger commented on gene: PITX2: DDG2P rating in original PAGE list: Confirmed for IRIDOGONIODYSGENESIS TYPE 2, Confirmed for RING DERMOID OF CORNEA, Confirmed for AXENFELD-RIEGER SYNDROME TYPE 1, Confirmed for PETERS ANOMALY, | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | PITX2 | Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PITX2 | Rebecca Foulger Added phenotypes PETERS ANOMALY for gene: PITX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PITX2 | Rebecca Foulger Added phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 for gene: PITX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PITX2 | Rebecca Foulger Added phenotypes RING DERMOID OF CORNEA for gene: PITX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PITX2 |
Rebecca Foulger gene: PITX2 was added gene: PITX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2 |