06 Aug 2019
Early onset or syndromic epilepsy v1.191
COQ9
Rebecca Foulger Source Wessex and West Midlands GLH was added to COQ9.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
COQ9
Rebecca Foulger Source NHS GMS was added to COQ9.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
COQ9
Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
13 Nov 2018
Early onset or syndromic epilepsy v0.810
COQ9
Sarah Leigh Marked gene: COQ9 as ready
13 Nov 2018
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)
13 Nov 2018
Early onset or syndromic epilepsy v0.810
COQ9
Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.810
COQ9
Sarah Leigh Publications for gene: COQ9 were set to
13 Nov 2018
Early onset or syndromic epilepsy v0.809
COQ9
Sarah Leigh Classified gene: COQ9 as Green List (high evidence)
13 Nov 2018
Early onset or syndromic epilepsy v0.809
COQ9
Sarah Leigh Gene: coq9 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.808
COQ9
Sarah Leigh Mode of inheritance for gene: COQ9 was changed from to BIALLELIC, autosomal or pseudoautosomal
13 Nov 2018
Early onset or syndromic epilepsy v0.807
COQ9
Sarah Leigh Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, 614654
12 Aug 2018
Early onset or syndromic epilepsy
COQ9
Zornitza Stark reviewed gene: COQ9
25 Jun 2018
Early onset or syndromic epilepsy
COQ9
Sarah Leigh Added gene to panel