Familial Hirschsprung DiseaseGene: MED12
Comment when marking as ready: Marked MED12 as ready: August 3rd 2017. Red review plus insufficient evidence for role of MED12 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:31 a.m.
PMID:24715367 (Isidor 2014) report on 2 male sibs with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Both siblings had a missense mutation c.3443G>A (p.Arg1148His) inherited from the mother.
Created: 5 Jun 2017, 1:49 p.m.
18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
This gene has been classified as Red List (Low Evidence).
MED12 was added to Familial Hirschsprung Diseasepanel. Sources: Literature
MED12 was created by rfoulger