Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | TACO1 |
Ivone Leong Source NHS GMS was added to TACO1. Source London North GLH was added to TACO1. |
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| Likely inborn error of metabolism v0.4 | TACO1 | Ellen McDonagh Added phenotypes Mitochondrial Respiratory Chain Complex IV Deficiency; Mitochondrial Diseases; ?Mitochondrial complex IV deficiency, 220110; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency for gene: TACO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | TACO1 |
Ellen McDonagh gene: TACO1 was added gene: TACO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TACO1 were set to 27604308 Phenotypes for gene: TACO1 were set to Mitochondrial Diseases; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); ?Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Mitochondrial Respiratory Chain Complex IV Deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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