JAK1 and cardiospondylocarpofacial syndrome: The genes were RYR2, LZTR1, JAK1 and MAP3K7. In this PCM cohort, there are two probands with de novo missense variants in MAP3K7. Pathogenic variants in MAP3K7 have been associated with cardiospondylocarpofacial syndrome (CSCF); phenotypically this can overlap with Noonan syndrome (NS).