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Intellectual disability

Gene: CLIC2

Red List (low evidence)

CLIC2 (chloride intracellular channel 2)
EnsemblGeneIds (GRCh38): ENSG00000155962
EnsemblGeneIds (GRCh37): ENSG00000155962
OMIM: 300138, Gene2Phenotype
CLIC2 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Takano et al (PMID: 22814392) report a CLIC2 variant in 2 brothers with profound ID but lack of evidence that the CLIC2 mutation affects the brain. El-Hattab et al (PMID: 25927380) report several cases and review of literature of duplication of the region containing CLIC2 (but also RAB39B) in individuals with cognitive impairment. More functional and segregation evidence for RAB39B causing ID (e.g. PMID: 29152164) than CLIC2.
Created: 1 Mar 2018, 9:15 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Mental retardation, X-linked, syndromic 32, 300886
OMIM
300138
Clinvar variants
Variants in CLIC2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CLIC2.

12 Mar 2018, Gel status: 1

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.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene CLIC2 was set to ['22814392', '25927380']

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: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

CLIC2 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CLIC2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CLIC2 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CLIC2 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen