White matter disorders and cerebral calcification - narrow panel
Gene: CIC

CIC (capicua transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000079432
EnsemblGeneIds (GRCh37): ENSG00000079432
OMIM: 612082, Gene2Phenotype
CIC is in 5 panels

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Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Mental retardation, autosomal dominant 45 617600

OMIM

612082

Clinvar variants

Variants in CIC

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CIC was added gene: CIC was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CIC were set to 28288114; 24896178; 21076407 Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600