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| Paediatric or syndromic cardiomyopathy v0.16 | COA5 | Ivone Leong commented on gene: COA5: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | COA5 |
Ivone Leong Source Expert Review Green was added to COA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric or syndromic cardiomyopathy v0.1 | COA5 |
Ivone Leong gene: COA5 was added gene: COA5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA5 were set to 27604308 Phenotypes for gene: COA5 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 |
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