Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MAP2K1

MAP2K1 (mitogen-activated protein kinase kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000169032
EnsemblGeneIds (GRCh37): ENSG00000169032
OMIM: 176872, Gene2Phenotype
MAP2K1 is in 20 panels

1 review

Isaac ‎Machado Azevedo (Independent Researcher)

I don't know

At least 15 patients (conservative floor) with germline heterozygous gain-of-function MAP2K1 variants (cardiofaciocutaneous syndrome 3) presenting lymphopenia and hypogammaglobulinemia. AD, typically de novo, kinase-domain clustering. No OMIM entry currently lists the immune phenotype.
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

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

176872

Clinvar variants

Variants in MAP2K1

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: MAP2K1 was added gene: MAP2K1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Primary immunodeficiency or monogenic inflammatory bowel disease Gene: MAP2K1