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DDG2P

Gene: CIC

Amber List (moderate evidence)

CIC (capicua transcriptional repressor)
EnsemblGeneIds (GRCh38): ENSG00000079432
EnsemblGeneIds (GRCh37): ENSG00000079432
OMIM: 612082, Gene2Phenotype
CIC is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of pathogenicity: Changed MOP to default LOF to match Gene2Phenotype update: current Mutation consequence in Gene2Phenotype is 'Loss of Function'.
Created: 5 Nov 2019, 2:22 p.m. | Last Modified: 5 Nov 2019, 2:23 p.m.
Panel Version: 1.148
Comment on list classification: Updated rating from Red to Amber following a change in G2P Disease confidence from possible to probable for 'CAPICUA, DROSOPHILA, HOMOLOG OF'.
Created: 5 Nov 2019, 2:21 p.m. | Last Modified: 5 Nov 2019, 2:21 p.m.
Panel Version: 1.147
Original DDG2P rating for CAPICUA, DROSOPHILA, HOMOLOG OF: possible. DDG2P mode of pathogenicity: uncertain. Allelic requirement: monoallelic.
Created: 19 Nov 2018, 11:29 a.m. | Last Modified: 5 Nov 2019, 2:23 p.m.
Panel Version: 1.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • CAPICUA, DROSOPHILA, HOMOLOG OF 612082
OMIM
612082
Clinvar variants
Variants in CIC
Penetrance
None
Panels with this gene

History Filter Activity

5 Nov 2019, Gel status: 2

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: CIC was changed from Other - please provide details in the comments to None

5 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: cic has been classified as Amber List (Moderate Evidence).

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CIC was added gene: CIC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CIC were set to CAPICUA, DROSOPHILA, HOMOLOG OF 612082 Mode of pathogenicity for gene: CIC was set to Other - please provide details in the comments