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Early onset or syndromic epilepsy v1.191 CC2D2A Rebecca Foulger Source Wessex and West Midlands GLH was added to CC2D2A.
Early onset or syndromic epilepsy v1.190 CC2D2A Rebecca Foulger Source NHS GMS was added to CC2D2A.
Early onset or syndromic epilepsy v1.189 CC2D2A Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Marked gene: CC2D2A as ready
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.
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Classified gene: CC2D2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.468 CC2D2A Sarah Leigh Gene: cc2d2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.467 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
Early onset or syndromic epilepsy v0.466 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to 22241855; 19574260
Early onset or syndromic epilepsy v0.465 CC2D2A Sarah Leigh Publications for gene: CC2D2A were set to
Early onset or syndromic epilepsy v0.464 CC2D2A Sarah Leigh Added comment: Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284
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
Early onset or syndromic epilepsy v0.463 CC2D2A Sarah Leigh Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy CC2D2A Zornitza Stark reviewed gene: CC2D2A
Early onset or syndromic epilepsy CC2D2A Sarah Leigh Added gene to panel