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Intellectual disability

Gene: CLCNKB

Red List (low evidence)
CLCNKB (chloride voltage-gated channel Kb)
EnsemblGeneIds (GRCh38): ENSG00000184908
EnsemblGeneIds (GRCh37): ENSG00000184908
OMIM: 602023, Gene2Phenotype
CLCNKB is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Created: 10 Aug 2023, 9:41 a.m. | Last Modified: 10 Aug 2023, 9:41 a.m.
Panel Version: 5.252
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 recessive
Created: 28 Feb 2018, 3:21 p.m.
Created: 28 Feb 2018, 3:19 p.m.

Panel version: Imported from Intellectual disability update Jan 2018 panel version 0.193

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
BARTTER SYNDROME TYPE 4B

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:27 a.m.

Panel version: 0.306

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bartter syndrome, type 3, OMIM:607364
  • Bartter disease type 3, MONDO:0011822
  • Bartter syndrome, type 4b, digenic, OMIM:613090
  • Bartter disease type 4B, MONDO:0000909
Tags
monogenic-polygenic
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Aug 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

10 Aug 2023, Gel status: 1

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag digenic was removed from gene: CLCNKB. Tag monogenic-polygenic tag was added to gene: CLCNKB.

8 Aug 2023, Gel status: 1

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag polygenic was removed from gene: CLCNKB. Tag digenic tag was added to gene: CLCNKB.

8 Aug 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909

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 mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene CLCNKB was set to ['15044642', '18310267', '16391491']

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCNKB was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CLCNKB was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen