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Newborns main panel

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: 0.480
Created: 25 Sep 2024, 4 p.m.
Last Modified: 18 Nov 2025, 3:22 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35515972 - 1 case PMID: 36999084 - 2 cases PMID: 34624559 - 5 cases PMID: 34753502 - 2 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteopetrosis type 4, autosomal recessive
Tags
special_consideration
OMIM
602727
Clinvar variants
Variants in CLCN7
Penetrance
None
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 recessive

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

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Osteopetrosis type 4 for gene: CLCN7

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag LOF/dominant-negative was removed from gene: CLCN7.

31 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CLCN7. Mode of inheritance for gene CLCN7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Osteopetrosis type 4 for gene: CLCN7 Rating Changed from No List (delete) to Green List (high evidence)

28 Mar 2023, Gel status: 0

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag LOF/dominant-negative tag was added to gene: CLCN7.

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: CLCN7 was added gene: CLCN7 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to Osteopetrosis type 4