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| Fetal anomalies v0.153 | OPHN1 | Rebecca Foulger edited their review of gene: OPHN1: 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 v0.61 | OPHN1 | Louise Daugherty Phenotypes for gene: OPHN1 were changed from MENTAL RETARDATION X-LINKED OPHN1-RELATED to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | OPHN1 | Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED |
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