Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DSG1

DSG1 (desmoglein 1)
EnsemblGeneIds (GRCh38): ENSG00000134760
EnsemblGeneIds (GRCh37): ENSG00000134760
OMIM: 125670, Gene2Phenotype
DSG1 is in 7 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

Approximately 20 patients across 12 unrelated kindreds with SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting) due to biallelic DSG1 loss-of-function; severe atopy and recurrent infections. Mostly AR; 1 kindred with dominant-negative heterozygous missense causing intermediate phenotype.
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

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

125670

Clinvar variants

Variants in DSG1

Penetrance

None

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DSG1 was added gene: DSG1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: DSG1