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Epileptic encephalopathy

Gene: CIC

Green List (high evidence)

CIC (capicua transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000079432
EnsemblGeneIds (GRCh37): ENSG00000079432
OMIM: 612082, Gene2Phenotype
CIC is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a possible G2P. At least 5 variants reported in 5 cases. OMIM 612082, lists seizures, hypotonia and autistic features as some of the phenotypic features
19 Dec 2017, 5:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 45 617600

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
OMIM
612082
Clinvar variants
Variants in CIC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CIC was added to Epileptic encephalopathy panel. Sources: Literature

19 Dec 2017, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CIC was created by Sarah Leigh