COVID-19 research
Gene: CLCN7

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

2 reviews

Louise Daugherty (Genomics England Curator)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CLCN7 .PanelApp HGNC gene symbol check: CLCN7 . IUIS Disease: CLCN7 deficiency associated osteopetrosis . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Osteoclasts. IUIS Associated features: Osteopetrosis with hypocalcemia, neurologic features. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Other Inborn Errors of Immunity Related to Non-Hematopoietic Tissues
Created: 6 Jul 2018, 12:13 p.m.

Created: 6 Jul 2018, 12:13 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Sophie Hambleton (Newcastle University)

Red List (low evidence)

osteopetrosis should not be confused clinically with primary immunodeficiency
Created: 29 Jun 2018, 4:15 p.m.

Created: 29 Jun 2018, 4:15 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1370

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019
IUIS Classification February 2018
IUIS Classification December 2019
IUIS Classification February 2018

Phenotypes

Defects in Intrinsic and Innate Immunity
Osteopetrosis with hypocalcemia, neurologic features

OMIM

602727

Clinvar variants

Variants in CLCN7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to CLCN7. Added phenotypes Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features for gene: CLCN7 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CLCN7 was added gene: CLCN7 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 32086639; 32048120 Phenotypes for gene: CLCN7 were set to Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features

COVID-19 research Gene: CLCN7