Activity
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7 actions
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| Fetal anomalies v5.71 | TUFM | Achchuthan Shanmugasundram Phenotypes for gene: TUFM were changed from Combined oxidative phosphorylation deficiency 4, OMIM:610678; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 to Combined oxidative phosphorylation deficiency 4, OMIM:610678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | TUFM | Achchuthan Shanmugasundram commented on gene: TUFM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | TUFM | Sarah Graham reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM#610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | TUFM |
Achchuthan Shanmugasundram Source NHS GMS was added to TUFM. Added phenotypes Combined oxidative phosphorylation deficiency 4, OMIM:610678 for gene: TUFM Publications for gene: TUFM were updated from to 26741492; 17160893 |
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| Fetal anomalies v0.9 | TUFM | Rebecca Foulger commented on gene: TUFM: DDG2P rating in original PAGE list: Probable for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | TUFM | Rebecca Foulger reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | TUFM |
Rebecca Foulger gene: TUFM was added gene: TUFM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
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