Primary immunodeficiency or monogenic inflammatory bowel disease
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: 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: 0.1370

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

IUIS Classification December 2019
Expert Review Red
IUIS Classification February 2018

Phenotypes

Osteopetrosis, autosomal recessive 4, OMIM:611490
Osteopetrosis, autosomal dominant 2, OMIM:166600

OMIM

602727

Clinvar variants

Variants in CLCN7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 Oct 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Oct 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CLCN7 were changed from Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600 to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600

20 Oct 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CLCN7 were changed from Defects in Intrinsic and Innate Immunity; Osteopetrosis with hypocalcemia, neurologic features to Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600

28 Feb 2020, Gel status: 1