Activity
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| Fetal anomalies v4.160 | SLC25A26 | Achchuthan Shanmugasundram Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Combined oxidative phosphorylation deficiency 28, OMIM:616794 to Combined oxidative phosphorylation deficiency 28, OMIM:616794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | SLC25A26 | Achchuthan Shanmugasundram commented on gene: SLC25A26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SLC25A26 | Anna de Burca reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522469, 33082562; Phenotypes: Combined oxidative phosphorylation deficiency 28, OMIM:616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | SLC25A26 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC25A26. Source NHS GMS was added to SLC25A26. Added phenotypes Combined oxidative phosphorylation deficiency 28, OMIM:616794 for gene: SLC25A26 Publications for gene: SLC25A26 were updated from to 26522469; 33082562 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.311 | SLC25A26 | Rebecca Foulger edited their review of gene: SLC25A26: 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 | SLC25A26 |
Rebecca Foulger Source Expert Review Red was added to SLC25A26. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | SLC25A26 | Rebecca Foulger reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SLC25A26 |
Rebecca Foulger gene: SLC25A26 was added gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY |
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