Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ZNF699

ZNF699 (zinc finger protein 699)
EnsemblGeneIds (GRCh38): ENSG00000196110
EnsemblGeneIds (GRCh37): ENSG00000196110
OMIM: 609571, Gene2Phenotype
ZNF699 is in 4 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

30 individuals total with biallelic ZNF699 variants (DEGCAGS syndrome); only 1 patient (Giardino 2026, PMID 42534679) has documented objective immune work-up (flow cytometry, KRECs, TRECs) meeting ESID criteria for combined immunodeficiency. Broader cohort reports composite infection-proneness (42%) without immune-specific breakdown. AR.
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

42534679

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

609571

Clinvar variants

Variants in ZNF699

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: ZNF699 was added gene: ZNF699 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: ZNF699