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| Cardiomyopathy_Paediatric v1.43 | COQ2 | Sarah Milton Classified gene: COQ2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.43 | COQ2 | Sarah Milton Gene: coq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.42 | COQ2 |
Sarah Milton gene: COQ2 was added gene: COQ2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 40929079; 33677064 Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, MIM#607426 Review for gene: COQ2 was set to GREEN Added comment: Biallelic loss of function in COQ2 results in a wide spectrum of disease with the most severe being multisystem neonatal onset form with severity of presentation correlating to level of residual enzyme activity. Hypertrophic cardiomyopathy has been reported in a small number of individuals with the severe neonatal form. Note the small number of papers asserting a degree of treatment response to COQ10/4-hydroxybenzoic acid Sources: Literature |
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