This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: MED12
MED12 (mediator complex subunit 12)
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 1:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- ClinGen
- Expert Review Red
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Non-syndromic familial congenital anorectal malformations
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Early onset or syndromic epilepsy
- Thoracic aortic aneurysm or dissection
- Clefting
- Fetal anomalies
- DDG2P
- Familial Hirschsprung Disease
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
22 Jun 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MED12 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Red
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MED12 was created by ellenmcdonagh