Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DNAJC17

DNAJC17 (DnaJ heat shock protein family (Hsp40) member C17)
EnsemblGeneIds (GRCh38): ENSG00000104129
EnsemblGeneIds (GRCh37): ENSG00000104129
OMIM: 616844, Gene2Phenotype
DNAJC17 is in 1 panel

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

3 patients from 2 unrelated consanguineous families, homozygous c.681G>A (splice-donor, exon 9), with TNF-driven autoinflammation, retinitis pigmentosa and hypogammaglobulinemia; functional studies confirm reduced DNAJC17 protein (hypomorphic LOF). PMID 42495638.
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

42495638

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

616844

Clinvar variants

Variants in DNAJC17

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: DNAJC17 was added gene: DNAJC17 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DNAJC17 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: DNAJC17