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Genetic epilepsy syndromes

Gene: CIC

Green List (high evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Phenotypes
Mental retardation 45,617600

Publications

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
Created: 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
  • Expert Review Green
  • 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

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CIC.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CIC.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CIC was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Literature

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

CIC was created by Sarah Leigh