Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DDX58

DDX58 (DExD/H-box helicase 58)
EnsemblGeneIds (GRCh38): ENSG00000107201
EnsemblGeneIds (GRCh37): ENSG00000107201
OMIM: 609631, Gene2Phenotype
DDX58 is in 6 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

Approximately 19 patients across 6 kindreds with heterozygous gain-of-function RIG-I (DDX58) variants causing Singleton-Merten syndrome 2, a type I interferonopathy. AD.
Created: 6 Oct 2026, 6:07 p.m. | Last Modified: 6 Oct 2026, 6:07 p.m.

Panel Version: 9.109

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

OMIM

609631

Clinvar variants

Variants in DDX58

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: DDX58 was added gene: DDX58 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: DDX58