Early onset or syndromic epilepsy

Gene: CCDC88C

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: Alison Callaway and John Taylor. Suggested gene rating: Amber.

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

Panel Version: 1.189

I don't know

Two families in the literature (PMID: 23042809,21031079) where seizures and hydrocephalus were apparent, otherwise limited information

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
Hydrocephalus, congenital, 1, 236600 ; ?Spinocerebellar ataxia 40, 616053

Publications

• 21031079

Green List (high evidence)

Associated with phenotypes in OMIM and as a probable G2P gene for Hydrocephalus, nonsyndromic, autosomal recessive 236600, which includes siezures and mental retardation as features. At least 3 homozygous variants have been reported in three unrelated cases of Hydrocephalus, nonsyndromic, autosomal recessive 236600. However, seizures have only been reported in two unrelated cases.

Created: 19 Dec 2017, 4:37 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Spinocerebellar ataxia 40 616053 AD; Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR

Publications

• 23042809
• 21031079