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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