ClinGen Dosage Sensitivity Curation Page
MAP2K1
- Curation Status: Complete
- id: ISCA-17412
- Date last evaluated: 2015-10-13
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about MAP2K1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5604
- OMIM: https://omim.org/entry/176872
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MAP2K1%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.995
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.