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  3. CIC
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Fetal anomalies

Gene: CIC

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

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

Green on ID, epilepsy, white matter disorders. Not on Australian FA panel. Little evidence for prenatal phenotype.PMID: 28288114: Five individuals from 4 families with heterozygous nonsense/frameshift variants in CIC. Apparently de novo in 2 families, mosaic parent in one family, and presumed germline mosaic parent in family with two affected children. Neurodevelopmental phenotypes: ID/ADHD/ASD, seizures. MRI showed white matter hyperintensities in 3/5.PMID: 41836057: CIC NM_001386298.1:c.5395C>T p.(Gln1799Ter), maternally inherited and classified as likely pathogenic, observed in a fetus with severe growth restriction.PMID: 36054333: 8 CIC missense variants detected across 140 isolated spina bifida cases, possible susceptibility factor.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

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

Phenotypes
Intellectual developmental disorder, autosomal dominant 45, OMIM:617600; intellectual developmental disorder, autosomal dominant 45, MONDO:0030910

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 45, OMIM:617600
  • intellectual developmental disorder, autosomal dominant 45, MONDO:0030910
OMIM
612082
Clinvar variants
Variants in CIC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: CIC was added gene: CIC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CIC were set to 28288114; 41836057 Phenotypes for gene: CIC were set to Intellectual developmental disorder, autosomal dominant 45, OMIM:617600; intellectual developmental disorder, autosomal dominant 45, MONDO:0030910