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  3. CLCN7
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Newborns additional phenotypes panel 1

Gene: CLCN7

Green List (high evidence)
CLCN7 (chloride voltage-gated channel 7)
EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 10 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Osteopetrosis are included.
Created: 25 Sep 2024, 4 p.m. | Last Modified: 18 Nov 2025, 3:22 p.m.
Panel Version: 0.102
Created: 25 Sep 2024, 4 p.m.
Last Modified: 18 Nov 2025, 3:22 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
PMID: 17164308 - 94 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis type 4, autosomal dominant
Tags
special_consideration
OMIM
602727
Clinvar variants
Variants in CLCN7
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

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CLCN7.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLCN7 were changed from Osteopetrosis type 4 to Osteopetrosis type 4, autosomal dominant

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteopetrosis type 4 for gene: CLCN7

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 CLCN7. Added phenotypes Osteopetrosis type 4 for gene: CLCN7 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: CLCN7 was added gene: CLCN7 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CLCN7 were set to Osteopetrosis type 4 Mode of pathogenicity for gene: CLCN7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments