Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Likely inborn error of metabolism - targeted testing not possible v1.76 | TRMT10C |
Sarah Leigh Source Expert Review Green was added to TRMT10C. Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C Publications for gene TRMT10C were changed from to 27132592 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | TRMT10C |
Ellen McDonagh gene: TRMT10C was added gene: TRMT10C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT10C was set to Unknown Phenotypes for gene: TRMT10C were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |