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| Fetal anomalies v0.225 | COQ9 | Rebecca Foulger edited their review of gene: COQ9: 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. Additional notes from clinical review: Diagnostic variant in PAGE study - fetus with dilated heart, pericardial effusion, anhydramnios, IUGR. ; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.175 | COQ9 | Rebecca Foulger Publications for gene: COQ9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.174 | COQ9 | Rebecca Foulger commented on gene: COQ9: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in COQ9 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | COQ9 | Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COQ9 |
Rebecca Foulger gene: COQ9 was added gene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY |
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