Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MPL

MPL (MPL proto-oncogene, thrombopoietin receptor)
EnsemblGeneIds (GRCh38): ENSG00000117400
EnsemblGeneIds (GRCh37): ENSG00000117400
OMIM: 159530, Gene2Phenotype
MPL is in 7 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

At least 73 molecularly-confirmed patients across 7+ countries with congenital amegakaryocytic thrombocytopenia 1 (CAMT1) due to biallelic MPL loss-of-function, progressing to bone marrow failure. AR, distinct from AD/GOF MPL-driven thrombocythemia (OMIM 601977, out of scope).
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

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

159530

Clinvar variants

Variants in MPL

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

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: MPL