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Intellectual disability

Gene: CIC

Green List (high evidence)

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

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 11:23 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Agree. Appropriate phenotype.
Created: 18 Dec 2017, 3:36 p.m.

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.
Created: 15 Dec 2017, 9:38 a.m.

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

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAPICUA, DROSOPHILA, HOMOLOG OF; CIC

Publications

  • 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
OMIM
612082
Clinvar variants
Variants in CIC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cic has been classified as Green List (High Evidence).

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CIC.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to CIC. Panel: Intellectual disability Model of inheritance for gene CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CIC was set to ['21076407', ' 28288114', ' 24896178']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CIC was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CIC was added to Intellectual disabilitypanel. Sources: Expert Review Red