Early onset or syndromic epilepsy

Gene: CC2D2A

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR COACH syndrome (Mental retadation, ataxia due to cerebellar hypplasia and hepatic fibrosis, seizures less common (Brancati et al, 2009 - 14 families - 17% had seizures -thought to be a subtype of Joubert syndrome), AR Joubert syndrome 9 (some patients have seizures) and AR Meckel syndrome 6.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome 216360; Joubert syndrome, 612285; Meckel syndrome, 612284

Publications

• 22241855

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.

Created: 26 Sep 2018, 12:28 p.m.

Comment on phenotypes: Variants also reported in Meckel syndrome 6 612284

Created: 26 Sep 2018, 11:46 a.m.

Green List (high evidence)

Seizures are a reported feature of CC2D2A-related Joubert syndrome and COACH syndrome.

Created: 10 Aug 2018, 4:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert/COACH syndromes

Variants in this GENE are reported as part of current diagnostic practice