Familial Hirschsprung Disease

Gene: MED12

Red List (low evidence)

MED12 (mediator complex subunit 12)
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 11 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

18 Oct 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

3 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MED12 was added to Familial Hirschsprung Diseasepanel. Sources: Literature

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MED12 was created by rfoulger