Familial Hirschsprung Disease
Gene: MIR369
Comment when marking as ready: Marked MIR369 as ready: August 3rd 2017. Red review plus no direct evidence for role of MIR369 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 10:32 a.m.
Added 'locus-type-rna-micro' tag: the 3'-UTR of SOX4 is a direct target to MIR369 , and aberrant expression of MIR369 might play a crucial role in the development HSCR by regulating SOX4 expression [PMID:28412032].Created: 5 Jun 2017, 1:52 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.
Mode of inheritance for MIR369 was changed to Unknown
This gene has been classified as Red List (Low Evidence).
MIR369 was added to Familial Hirschsprung Diseasepanel. Sources: Literature
MIR369 was created by rfoulger