Activity
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9 actions
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| Fetal anomalies v8.26 | PNPT1 | Ida Ertmanska commented on gene: PNPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | PNPT1 | Beth Young reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: ; Publications: 37861028; Phenotypes: combined oxidative phosphorylation defect type 13, MONDO:0013977, Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | PNPT1 |
Ida Ertmanska Source NHS GMS was added to PNPT1. Added phenotypes combined oxidative phosphorylation defect type 13, MONDO:0013977; Combined oxidative phosphorylation deficiency 13, OMIM:614932 for gene: PNPT1 Publications for gene: PNPT1 were updated from to 37861028 |
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| Fetal anomalies v0.311 | PNPT1 | Rebecca Foulger edited their review of gene: PNPT1: 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 | PNPT1 |
Rebecca Foulger Source Expert Review Red was added to PNPT1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | PNPT1 | Rebecca Foulger commented on gene: PNPT1: DDG2P rating in original PAGE list: Confirmed for RESPIRATORY CHAIN DISORDER and Confirmed for HEARING LOSS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PNPT1 | Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PNPT1 | Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PNPT1 |
Rebecca Foulger gene: PNPT1 was added gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER |
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