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| Fetal anomalies v0.311 | NDUFS4 | Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | NDUFS4 |
Rebecca Foulger Source Expert Review Red was added to NDUFS4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | NDUFS4 | Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NDUFS4 | Rebecca Foulger Added phenotypes LEIGH SYNDROME DUP for gene: NDUFS4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NDUFS4 | Rebecca Foulger Added phenotypes LEIGH SYNDROME for gene: NDUFS4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NDUFS4 |
Rebecca Foulger gene: NDUFS4 was added gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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