This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: CLCNKB
CLCNKB (chloride voltage-gated channel Kb)
EnsemblGeneIds (GRCh38): ENSG00000184908
EnsemblGeneIds (GRCh37): ENSG00000184908
OMIM: 602023, Gene2Phenotype
CLCNKB is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000184908
EnsemblGeneIds (GRCh37): ENSG00000184908
OMIM: 602023, Gene2Phenotype
CLCNKB is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotypes in OMIM and as a probable G2P gene for Bartter syndrome, type 4b, digenic 613090, which includes intellectual disability as a feature, however, this condition is only caused by digenic variants in CLCNKB and CLCNKA therefore it has been rated as a red gene.
A single founder variant has been reported in Spain, with adult intellectual disability reported in one case of Atypical Bartter Syndrome (PMID 16391491) .Created: 28 Feb 2018, 4:12 p.m.
Comment on mode of inheritance: Bartter syndrome, type 3 607364 listed as biallelic and Bartter syndrome, type 4b, digenic 613090 as digenic recessiveCreated: 28 Feb 2018, 3:21 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Tags
- OMIM
- 602023
- Clinvar variants
- Variants in CLCNKB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
28 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Feb 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for CLCNKB were set to 15044642; 18310267; 16391491
28 Feb 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for CLCNKB were set to 15044642; 18310267
28 Feb 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for CLCNKB was changed from to BIALLELIC, autosomal or pseudoautosomal
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CLCNKB was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)CLCNKB was created by Ellen McDonagh