Early onset or syndromic epilepsy
Gene: CCDC88C
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
Two families in the literature (PMID: 23042809,21031079) where seizures and hydrocephalus were apparent, otherwise limited informationCreated: 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
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
Source Wessex and West Midlands GLH was added to CCDC88C.
Source NHS GMS was added to CCDC88C.
Sarah Leigh: Associated with phenotypes in
Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: CCDC88C.
Gene: ccdc88c has been classified as Amber List (Moderate Evidence).
CCDC88C was added to Genetic Epilepsy Syndromes panel. Sources: Literature
CCDC88C was created by Sarah Leigh