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| Likely inborn error of metabolism - targeted testing not possible v1.47 | COX20 |
Ivone Leong Source NHS GMS was added to COX20. Source London North GLH was added to COX20. |
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| Likely inborn error of metabolism - targeted testing not possible v1.8 | COX20 | Louise Daugherty Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only; OXPHOS assembly factors | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | COX20 |
Ellen McDonagh Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX20 Publications for gene COX20 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COX20 |
Ellen McDonagh gene: COX20 was added gene: COX20 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency |
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