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Intellectual disability

Gene: CLCNKA

Red List (low evidence)

CLCNKA (chloride voltage-gated channel Ka)
EnsemblGeneIds (GRCh38): ENSG00000186510
EnsemblGeneIds (GRCh37): ENSG00000186510
OMIM: 602024, Gene2Phenotype
CLCNKA is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Possible DD-G2P gene for 'Bartter syndrome type 4B'. However, this neonatal Bartter syndrome type 4B with sensorineural deafness (BARTS4B) is caused by simultaneous mutation in both the CLCNKA and CLCNKB genes, so although there is Delayed motor development, Mental retardation and Motor retardation as part of the observed phenotype which is applicable to the ID panel we currently do not represent digenic disorders.
Created: 20 Feb 2018, 11:55 a.m.
Comment on phenotypes: added phenotype from OMIM and Orphanet
Created: 20 Feb 2018, 11:32 a.m.

Details

Sources
  • Gene2Phenotype
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090
  • Infantile Bartter syndrome with sensorineural deafness, intellectual disability
Tags
polygenic
OMIM
602024
Clinvar variants
Variants in CLCNKA
Penetrance
None
Panels with this gene

History Filter Activity

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

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCNKA was added to Intellectual disability panel. Sources: Gene2Phenotype

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CLCNKA was created by Ellen McDonagh