ClinGen Dosage Sensitivity Curation Page

MAP2K1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Deletion of MAP2K1 (also known as MEK1) is not known to be associated with developmental phenotypes. Sequence-level gain-of-function-type mutations of MAP2K1 are associated with Noonan syndrome with and without multiple lentigines and cardio-facio-cutaneous syndrome.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Duplication of MAP2K1 (also known as MEK1) is not known to be associated with developmental phenotypes. Sequence-level gain-of-function-type mutations of MAP2K1 are associated with Noonan syndrome with and without multiple lentigines and cardio-facio-cutaneous syndrome.