Aortopathy_Connective Tissue Disorders
Gene: MED12
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
Gene: med12 has been classified as Green List (High Evidence).
Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520; Ohdo syndrome, X-linked, MIM# 300895; Opitz-Kaveggia syndrome, MIM# 305450
Publications for gene: MED12 were set to
Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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