This Panel is marked as Retired
Epileptic encephalopathy
Gene: CIC
CIC (capicua transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000079432
EnsemblGeneIds (GRCh37): ENSG00000079432
OMIM: 612082, Gene2Phenotype
CIC is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000079432
EnsemblGeneIds (GRCh37): ENSG00000079432
OMIM: 612082, Gene2Phenotype
CIC is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
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 featuresCreated: 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