Thoracic aortic aneurysm or dissection

Gene: MED12

Green List (high evidence)

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

6 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

309520 Lujan-Fryns syndrome - connective tissue disorder with ascending aortic aneurysm, ASD/VSD according to OMIM
Created: 25 Mar 2019, 4:30 p.m.
Khan et al 2016 Clin Med Insights Case Rep 9:115 describes this as being an intellectual disability syndrome with Marfanoid features. Patient has variant c.3020A>G p.Asn1007Ser, which has been reported several times with functional studies. This patient does not have aortic involvement and review of literature suggests that intellectual disability and Marfaniod body habitus are usual features with this variant and not aortic.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Nick Camm (NHS)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on phenotypes: 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' phenotype is taken from the name of the Emory gene panel.
Created: 31 Jul 2017, 5 p.m.

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications submitted by reviewer.
Created: 2 May 2017, 10:58 a.m.

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.
Created: 19 Feb 2016, 10:58 a.m.

Matina Prapa (Genomics England Curator)

Green List (high evidence)

Links to Lujan–Fryns syndrome with aortic root dilation. Med12 is critical member of the Wnt pathway involved in signalling during heart valve formation and cardiac neural crest development.
Created: 14 Feb 2016, 12:24 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
309520- Lujan-Fryns syndrome

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
OMIM
300188
Clinvar variants
Variants in MED12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MED12.

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to MED12. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 Jul 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MED12 were set to Lujan-Fryns syndrome, 309520; Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders

29 Jun 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for MED12 were set to 17369503; 20630950; 23506379

2 May 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MED12 were set to Lujan-Fryns syndrome, 309520;Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders

2 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MED12 were set to 17369503; 20630950

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for MED12 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MED12 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory