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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)

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.

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
BARTTER SYNDROME TYPE 4B

Lu Raymond (university of cambridge )

Red List (low evidence)

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, 607364Bartter syndrome, type 4b, digenic, 613090
  • BARTTER SYNDROME TYPE 4B
Tags
polygenic
OMIM
602023
Clinvar variants
Variants in CLCNKB
Penetrance
Complete
Publications
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

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