Associated disorders

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501103).

An estimated 25% of CFC syndrome is caused by pathogenic variants identified in MAP2K1 and MAP2K2. The percentage of Noonan syndrome attributed to pathogenic variants identified in MAP2K1 is unknown.

The MAP2K1 gene encodes a mitogen-activated protein (MAP) kinase that is in the RAS/MAPK signaling pathway. MAP kinases respond to extracellular and intracellular signals transmitted to the nucleus. These signals regulate cell growth, maturation, migration, and death. The MAPK21 gene is very similar to MAP2K2, and their functions are crucial for normal development before birth and survival after birth.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MAP2K1 NM_002755.3