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Epileptic encephalopathy

Gene: CCDC88C

Red List (low evidence)

CCDC88C (coiled-coil domain containing 88C)
EnsemblGeneIds (GRCh38): ENSG00000015133
EnsemblGeneIds (GRCh37): ENSG00000015133
OMIM: 611204, Gene2Phenotype
CCDC88C is in 10 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.
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

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

Sarah Leigh (Genomics England Curator)

CCDC88C was created by Sarah Leigh