Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: OSM

OSM (oncostatin M)
EnsemblGeneIds (GRCh38): ENSG00000099985
EnsemblGeneIds (GRCh37): ENSG00000099985
OMIM: 165095, Gene2Phenotype
OSM is in 1 panel

1 review

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

PMID: 39847438 Garrigue et al., 2025
Report of 3 female sibs from a consanguineous family presenting with inherited severe bone marrow failure syndromes (IBMFS) characterized by profound anemia, thrombocytopenia, and neutropenia. Patients showed no susceptibility to infection, nor any bone or psychomotor defects. WES detected a homozygous OSM: c.507_508insG; Arg170AlafsTer124 variant in P1 and P2, confirmed het in unaffected parents.
Sources: Literature
Created: 29 Jul 2026, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
bone marrow disorder, MONDO:0003225

Publications

39847438

Created: 29 Jul 2026, 2:01 p.m.

Panel version: 9.30

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

bone marrow disorder, MONDO:0003225

OMIM

165095

Clinvar variants

Variants in OSM

Penetrance

None

Publications

39847438

Panels with this gene

Primary immunodeficiency or monogenic inflammatory bowel disease

History Filter Activity

29 Jul 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: OSM was added gene: OSM was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: OSM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSM were set to 39847438 Phenotypes for gene: OSM were set to bone marrow disorder, MONDO:0003225 Review for gene: OSM was set to RED

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: OSM