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Newborns main panel

Gene: CLCN2

Amber List (moderate evidence)
CLCN2 (chloride voltage-gated channel 2)
EnsemblGeneIds (GRCh38): ENSG00000114859
EnsemblGeneIds (GRCh37): ENSG00000114859
OMIM: 600570, Gene2Phenotype
CLCN2 is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
CLCN2 chloride channel mutations in familial hyperaldosteronism type II - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Heterozygous GOF variants in CLCN2 are associated with Hyperaldosteronism; biallelic LOF are associated with Leukoencephalopathy. For newborns, we are including AD disease and NOT AR.
Created: 10 Mar 2023, 11:03 a.m. | Last Modified: 10 Mar 2023, 11:03 a.m.
Panel Version: 0.41
Created: 10 Mar 2023, 11:03 a.m.
Last Modified: 10 Mar 2023, 11:03 a.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hyperaldosteronism, familial, type II
OMIM
600570
Clinvar variants
Variants in CLCN2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CLCN2. Added phenotypes Hyperaldosteronism, familial, type II for gene: CLCN2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CLCN2. Added phenotypes Hyperaldosteronism, familial, type II for gene: CLCN2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: CLCN2.

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CLCN2. Added phenotypes Hyperaldosteronism, familial, type II for gene: CLCN2 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CLCN2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: CLCN2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: CLCN2.

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperaldosteronism, familial, type II for gene: CLCN2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CLCN2 was added gene: CLCN2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown