06 Aug 2019
Early onset or syndromic epilepsy v1.191
CC2D2A
Rebecca Foulger Source Wessex and West Midlands GLH was added to CC2D2A.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
CC2D2A
Rebecca Foulger Source NHS GMS was added to CC2D2A.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
CC2D2A
Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
CC2D2A
Tracy Lester reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22241855; Phenotypes: COACH syndrome 216360, Joubert syndrome, 612285, Meckel syndrome, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2018
Early onset or syndromic epilepsy v0.468
CC2D2A
Sarah Leigh Marked gene: CC2D2A as ready
26 Sep 2018
Early onset or syndromic epilepsy v0.468
CC2D2A
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for all of the associated phenotypes. At least 8 variants reported in unrelated cases of Joubert syndrome 9 612285 and one case of COACH syndrome 216360 displaying seizures as part of the overall phenotype.
26 Sep 2018
Early onset or syndromic epilepsy v0.468
CC2D2A
Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
26 Sep 2018
Early onset or syndromic epilepsy v0.468
CC2D2A
Sarah Leigh Classified gene: CC2D2A as Green List (high evidence)
26 Sep 2018
Early onset or syndromic epilepsy v0.468
CC2D2A
Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
26 Sep 2018
Early onset or syndromic epilepsy v0.467
CC2D2A
Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
26 Sep 2018
Early onset or syndromic epilepsy v0.466
CC2D2A
Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
26 Sep 2018
Early onset or syndromic epilepsy v0.465
CC2D2A
Sarah Leigh Publications for gene: CC2D2A were set to
26 Sep 2018
Early onset or syndromic epilepsy v0.464
CC2D2A
Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284
26 Sep 2018
Early onset or syndromic epilepsy v0.464
CC2D2A
Sarah Leigh Phenotypes for gene: CC2D2A were changed from to COACH syndrome 216360; Joubert syndrome 9 612285
26 Sep 2018
Early onset or syndromic epilepsy v0.463
CC2D2A
Sarah Leigh Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
10 Aug 2018
Early onset or syndromic epilepsy
CC2D2A
Zornitza Stark reviewed gene: CC2D2A
25 Jun 2018
Early onset or syndromic epilepsy
CC2D2A
Sarah Leigh Added gene to panel