Activity
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7 actions
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| Fetal anomalies v8.26 | TTC1 | Ida Ertmanska commented on gene: TTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | TTC1 | Sarah Graham reviewed gene: TTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26539891, 40879651; Phenotypes: pontocerebellar hypoplasia, MONDO:0020135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | TTC1 |
Ida Ertmanska gene: TTC1 was added gene: TTC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC1 were set to 26539891; 40879651 Phenotypes for gene: TTC1 were set to pontocerebellar hypoplasia, MONDO:0020135 |
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| Fetal anomalies v0.311 | TTC19 | Rebecca Foulger edited their review of gene: TTC19: 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 | TTC19 |
Rebecca Foulger Source Expert Review Red was added to TTC19. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | TTC19 | Rebecca Foulger reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TTC19 |
Rebecca Foulger gene: TTC19 was added gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY |
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