Defects of intrinsic and innate immunity

Gene: CLCN7

Green List (high evidence)

CLCN7 (chloride voltage-gated channel 7)
EnsemblGeneIds (GRCh38): ENSG00000103249
EnsemblGeneIds (GRCh37): ENSG00000103249
OMIM: 602727, Gene2Phenotype
CLCN7 is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 unrelated cases reported, and a supporting mouse model. Impaired osteoclast (derived from myeloid/monocyte lineage) function is a feature of the condition.
Sources: Expert list
Created: 19 Mar 2021, 1:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 4 MIM#611490

Publications

History Filter Activity

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: clcn7 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: clcn7 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CLCN7 was added gene: CLCN7 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN7 were set to 11207362; 15231021; 17033731; 19507210; 32048120 Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4 MIM#611490 Review for gene: CLCN7 was set to GREEN