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| Likely inborn error of metabolism - targeted testing not possible v4.96 | TRIT1 | Eleanor Williams Phenotypes for gene: TRIT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM :617873 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM :617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.252 | TRIT1 | Eleanor Williams Phenotypes for gene: TRIT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM :617873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.251 | TRIT1 | Eleanor Williams Phenotypes for gene: TRIT1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 35 617873 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 35, OMIM:617873 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.250 | TRIT1 | Eleanor Williams Tag gene-checked tag was added to gene: TRIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | TRIT1 |
Sarah Leigh Source Expert Review Green was added to TRIT1. Mode of inheritance for gene TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 35 617873 for gene: TRIT1 Publications for gene TRIT1 were changed from to 24901367; 28185376 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | TRIT1 |
Ellen McDonagh gene: TRIT1 was added gene: TRIT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRIT1 was set to Unknown Phenotypes for gene: TRIT1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype |
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