Intellectual disability update Jan 2018
Gene: CLIC2

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

1 review

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.

Created: 28 Feb 2018, 1:21 p.m.

Panel version: 0.178

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

OMIM

300138

Clinvar variants

Variants in CLIC2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for CLIC2 were set to 22814392; 25927380

1 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CLIC2 was added to Intellectual disability update Jan 2018 panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert Review Red