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Cardiomyopathy_Paediatric v0.134 | COQ4 | Zornitza Stark Tag treatable tag was added to gene: COQ4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.112 | COQ4 | Zornitza Stark Marked gene: COQ4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.112 | COQ4 | Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.112 | COQ4 | Zornitza Stark Classified gene: COQ4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.112 | COQ4 | Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.111 | COQ4 |
Zornitza Stark gene: COQ4 was added gene: COQ4 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ4 were set to 25658047; 26185144; 33704555 Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Review for gene: COQ4 was set to GREEN Added comment: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. HCM reported in multiple individuals. At least 9 unrelated families reported. Sources: Expert Review |