Familial Hirschsprung Disease
Gene: MAPK10
Comment when marking as ready: Marked as ready: August 14th 2017.Created: 14 Aug 2017, 12:36 p.m.
Comment on list classification: Assessed literature evidence, and kept rating as Red until further genotype:phenotype evidence becomes available.Created: 14 Aug 2017, 12:36 p.m.
Added 'cnv' tag based on PMID:21712996, which shows CNVs at MAPK10 locus that show association with HSCR in combination with other congenital anomalies.Created: 5 Jun 2017, 1:45 p.m.
Rat model supporting MAPK10 as a HSCR susceptibility locus reported in PMID:27902697.Created: 5 Jun 2017, 1:43 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 MAPK10 was changed to Unknown
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
MAPK10 was created by rfoulger
MAPK10 was added to Familial Hirschsprung Diseasepanel. Sources: Literature