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Early onset or syndromic epilepsy v1.191 COQ9 Rebecca Foulger Source Wessex and West Midlands GLH was added to COQ9.
Early onset or syndromic epilepsy v1.190 COQ9 Rebecca Foulger Source NHS GMS was added to COQ9.
Early onset or syndromic epilepsy v1.189 COQ9 Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 COQ9 Tracy Lester reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26081641; Phenotypes: Coenzyme Q10 deficiency primary, 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Marked gene: COQ9 as ready
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Coenzyme Q10 deficiency, primary, 5, 614654, although seizures are not mentioned. At least 2 loss of function variants have been reported in two unrelated cases. In vitro studies show that expression of wildtype COQ9 in patient cells carrying homozygous c.521+1del can rescue reduced activity of mitochondrial complex II/III and restore CoQ10 and COQ7 levels (PMID 26081641)
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.810 COQ9 Sarah Leigh Publications for gene: COQ9 were set to
Early onset or syndromic epilepsy v0.809 COQ9 Sarah Leigh Classified gene: COQ9 as Green List (high evidence)
Early onset or syndromic epilepsy v0.809 COQ9 Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.808 COQ9 Sarah Leigh Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.807 COQ9 Sarah Leigh Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, 614654
Early onset or syndromic epilepsy COQ9 Zornitza Stark reviewed gene: COQ9
Early onset or syndromic epilepsy COQ9 Sarah Leigh Added gene to panel