Epileptic encephalopathy
Gene: CCDC88C

CCDC88C (coiled-coil domain containing 88C)
EnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

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.
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

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

Panel version: 1.111

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

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

OMIM

611204

Clinvar variants

Variants in CCDC88C

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CCDC88C was added to Epileptic encephalopathy panel. Sources: Literature

19 Dec 2017, Gel status: 1

Created