06 Aug 2019
Early onset or syndromic epilepsy v1.191
COQ4
Rebecca Foulger Source Wessex and West Midlands GLH was added to COQ4.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
COQ4
Rebecca Foulger Source NHS GMS was added to COQ4.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
COQ4
Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
13 Nov 2018
Early onset or syndromic epilepsy v0.804
COQ4
Sarah Leigh Marked gene: COQ4 as ready
13 Nov 2018
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.
13 Nov 2018
Early onset or syndromic epilepsy v0.804
COQ4
Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.804
COQ4
Sarah Leigh Classified gene: COQ4 as Green List (high evidence)
13 Nov 2018
Early onset or syndromic epilepsy v0.804
COQ4
Sarah Leigh Gene: coq4 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.803
COQ4
Sarah Leigh Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7 616276
13 Nov 2018
Early onset or syndromic epilepsy v0.802
COQ4
Sarah Leigh Publications for gene: COQ4 were set to
13 Nov 2018
Early onset or syndromic epilepsy v0.801
COQ4
Sarah Leigh Mode of inheritance for gene: COQ4 was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Aug 2018
Early onset or syndromic epilepsy
COQ4
Zornitza Stark reviewed gene: COQ4
25 Jun 2018
Early onset or syndromic epilepsy
COQ4
Sarah Leigh Added gene to panel