This Panel is marked as Deleted
Arthrogryposis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Clefting
- Thoracic aortic aneurysm or dissection (GMS)
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
- Familial Hirschsprung Disease
- Retinal disorders
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)MED12 was added to Arthrogryposis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)MED12 was created by Sarah Leigh