This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: CLCNKA
CLCNKA (chloride voltage-gated channel Ka)
EnsemblGeneIds (GRCh38): ENSG00000186510
EnsemblGeneIds (GRCh37): ENSG00000186510
OMIM: 602024, Gene2Phenotype
CLCNKA is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000186510
EnsemblGeneIds (GRCh37): ENSG00000186510
OMIM: 602024, Gene2Phenotype
CLCNKA is in 5 panels
1 review
Louise Daugherty (Genomics England Curator)
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 OrphanetCreated: 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
- OMIM
- 602024
- Clinvar variants
- Variants in CLCNKA
- Penetrance
- None
- Panels with this gene
History Filter Activity
20 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CLCNKA were set to Bartter syndrome, type 4b, digenic, 613090; Infantile Bartter syndrome with sensorineural deafness, intellectual disability
20 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CLCNKA were set to Bartter syndrome, type 4b, digenic, 613090; Infantile Bartter syndrome with sensorineural deafness
20 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CLCNKA were set to Bartter syndrome, type 4b, digenic, 613090
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CLCNKA was added to Intellectual disability update Jan 2018 panel. Sources: Gene2Phenotype
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)CLCNKA was created by Ellen McDonagh