Aortopathy_Connective Tissue Disorders

Gene: MED12

Green List (high evidence)

MED12 (mediator complex subunit 12)
EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30071989; Classified as 'No Evidence' by Clingen for heritable thoracic aortic aneurysm and dissection

GeneReviews: updated 2016, 22 families
Opitz-Kaveggia syndrome (FS syndrome); X-Linked Ohdo Syndrome (XLOS); Lujan Syndrome (LS) are collectively known as MED12-related disorders. due to overlapping features These patients are reported to have joint hypermobility, joint contractures and hip dysplasia (https://www.ncbi.nlm.nih.gov/books/NBK1676/)

PMID: 19938245; 23 males from 10 families with FS syndrome and the same p.R961W variant

PMID: 23395478; 3 families with 5 affected males with X-Linked Ohdo Syndrome

PMID: 17369503; 2 families with 8 affected males with Lujan Syndrome
Created: 25 Jun 2020, 5:19 a.m. | Last Modified: 25 Jun 2020, 5:19 a.m.
Panel Version: 0.26

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

Phenotypes
heritable thoracic aortic aneurysm and dissection; Opitz-Kaveggia syndrome (FS syndrome); X-Linked Ohdo Syndrome (XLOS); Lujan Syndrome (LS)

Publications

History Filter Activity

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: med12 has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520; Ohdo syndrome, X-linked, MIM# 300895; Opitz-Kaveggia syndrome, MIM# 305450

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MED12 were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MED12 was added gene: MED12 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MED12 was set to Unknown