1. Panels
  2. Ductal plate malformation
  3. CLCNKB
STRs in panel
Prev Next
Regions in panel
Prev Next

Ductal plate malformation

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

1 review

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, 9:37 a.m. | Last Modified: 10 Aug 2023, 9:37 a.m.
Panel Version: 1.25
Created: 10 Aug 2023, 9:37 a.m.
Last Modified: 10 Aug 2023, 9:37 a.m.
Panel version: 1.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
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
None
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

Added Tag

Sarah Leigh (Genomics England Curator)

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

10 Aug 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

8 Aug 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090) 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

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Red gene on Rare ciliopathy pa

12 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CLCNKB was added gene: CLCNKB was added to Ductal plate malformation (DPM). Sources: Expert list,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CLCNKB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090)