Aortopathy_Connective Tissue Disorders
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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 SyndromeCreated: 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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Lujan-Fryns syndrome, MIM# 309520
- Ohdo syndrome, X-linked, MIM# 300895
- Opitz-Kaveggia syndrome, MIM# 305450
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Liver Failure_Paediatric
- Blepharophimosis
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Congenital diaphragmatic hernia
- Aortopathy_Connective Tissue Disorders
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med12 has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MED12 were set to
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
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