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Early onset or syndromic epilepsy v1.191 COQ4 Rebecca Foulger Source Wessex and West Midlands GLH was added to COQ4.
Early onset or syndromic epilepsy v1.190 COQ4 Rebecca Foulger Source NHS GMS was added to COQ4.
Early onset or syndromic epilepsy v1.189 COQ4 Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 COQ4 Tracy Lester reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: Coenzyme Q10 deficiency primary, 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Marked gene: COQ4 as ready
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Classified gene: COQ4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.804 COQ4 Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.803 COQ4 Sarah Leigh Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7 616276
Early onset or syndromic epilepsy v0.802 COQ4 Sarah Leigh Publications for gene: COQ4 were set to
Early onset or syndromic epilepsy v0.801 COQ4 Sarah Leigh Mode of inheritance for gene: COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy COQ4 Zornitza Stark reviewed gene: COQ4
Early onset or syndromic epilepsy COQ4 Sarah Leigh Added gene to panel