Gastrointestinal neuromuscular disordersGene: SMO
Comment on list classification: Pseudoobstruction is reported to be present in some patients with Curry-Jones syndrome. The c.1234C-T, NM_005631.4 variant was reported in affected tissue from 8 patients with Curry-Jones syndrome, displaying somatic mosaicism (PMID: 27236920). Due to expert review, and that not all patients display pseudo-obstructions, and only one mosaic variant has been reported, this gene should remain red for now.
Created: 19 Oct 2016, 1:08 p.m.
Mode of inheritance
Other - please specify in evaluation comments
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Publications for SMO were set to 27236920
This gene has been classified as Red List (Low Evidence).
SMO was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature
SMO was created by sleigh