Epileptic encephalopathyGene: CIC
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
Mental retardation, autosomal dominant 45 617600
This gene has been classified as Green List (High Evidence).
CIC was added to Epileptic encephalopathy panel. Sources: Literature
CIC was created by Sarah Leigh