Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CLEC7A

CLEC7A (C-type lectin domain containing 7A)
EnsemblGeneIds (GRCh38): ENSG00000172243
EnsemblGeneIds (GRCh37): ENSG00000172243
OMIM: 606264, Gene2Phenotype
CLEC7A is in 1 panel

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

17 patients across 2 independent studies, founder c.714T>G (p.Tyr238*) and compound-heterozygous c.668T>G (p.Ile223Ser), with CLEC7A (Dectin-1) loss-of-function causing susceptibility to candidiasis/fungal disease; impaired beta-glucan-induced cytokine production confirmed functionally. PMIDs 19864674;36377664;31613800.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Candidiasis, familial, 4 (CANDF4) (MONDO:0013140)

Publications

Created: 6 Oct 2026, 6:07 p.m.
Last Modified: 6 Oct 2026, 6:07 p.m.
Panel version: 9.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

OMIM

606264

Clinvar variants

Variants in CLEC7A

Penetrance

None

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CLEC7A was added gene: CLEC7A was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CLEC7A was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: CLEC7A