Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CASP1

CASP1 (caspase 1)
EnsemblGeneIds (GRCh38): ENSG00000137752
EnsemblGeneIds (GRCh37): ENSG00000137752
OMIM: 147678, Gene2Phenotype
CASP1 is in 2 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

1 patient, heterozygous c.482G>A (p.Arg161His), gain-of-function causing systemic JIA with recurrent macrophage activation syndrome; elevated caspase-1 activity and IL-1beta/IL-18 confirmed functionally. PMID 32556329.
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

32556329

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

147678

Clinvar variants

Variants in CASP1

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: CASP1 was added gene: CASP1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CASP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: CASP1