Familial Hirschsprung Disease
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels
2 reviews
Erwin Brosens (Erasmus MC)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hirschsprung disease
- HSCR
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Thoracic aortic aneurysm or dissection (GMS)
- Early onset or syndromic epilepsy
- Arthrogryposis
- Thoracic aortic aneurysm or dissection
- Clefting
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Retinal disorders
- Familial Hirschsprung Disease
- Fetal anomalies
- Intellectual disability
History Filter Activity
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)MED12 was added to Familial Hirschsprung Diseasepanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)MED12 was created by rfoulger