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| Fetal anomalies v0.134 | OFD1 | Rebecca Foulger edited their review of gene: OFD1: 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 | OFD1 | Rebecca Foulger commented on gene: OFD1: DDG2P rating in original PAGE list: Confirmed for ORAL-FACIAL-DIGITAL SYNDROME TYPE 1, Confirmed for SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 and Confirmed for JOUBERT SYNDROME TYPE 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | OFD1 | Rebecca Foulger reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | OFD1 | Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 10 for gene: OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | OFD1 | Rebecca Foulger Added phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 for gene: OFD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | OFD1 |
Rebecca Foulger gene: OFD1 was added gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 |
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