Genetic epilepsy syndromesGene: CIC
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD mental retardation 45 - seizures reported in some patients. Lu et al, 2017 - 5 patients from 4 families with a neurodevelopmental disorder - 3 patients had seizures including blinking and staring episodes, myoclonic seizures, complex-partial seizures and absence seizures. 4 diff het truncating or fs variants reported - de novo although 2 aff sibs likely inherited the mutation from an unaffected parent who was a gonadal mosaic, and another patient inherited the variant from an unaffected father who was mosaci for the mutant allele. Cells derived from 1 patient showed a 50% decrease in mRNA and priten levels - consistent with haploinsufficiency.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mental retardation 45,617600
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
Created: 19 Dec 2017, 5:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mental retardation, autosomal dominant 45 617600
Source Wessex and West Midlands GLH was added to CIC.
Source NHS GMS was added to CIC.
Sarah Leigh: Associated with phenotype in O
CIC was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature
CIC was created by Sarah Leigh