Ehlers Danlos syndrome with a likely monogenic cause
Gene: MED12Comment on list classification: Demoted to Grey status. Comment from Richard Scott. This gene is on the intellectual disability panel which will be applied in relevant patientsCreated: 11 May 2017, 12:19 p.m.
Comment on phenotypes: Removed 'Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders' as this comes from the name of the sequencing panel from EGL Genetics. Gene on panel due to associated clinical phenotypes of Joint laxity, Joint hyperextensibility and Hyperextensibility of the skin, need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement.Created: 4 May 2017, 9:14 a.m.
Tag curated_removed tag was added to gene: MED12.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been removed from the panel.
Phenotypes for MED12 were set to Lujan-Fryns syndrome, 309520; Ohdo syndrome, X-linked, 300895; Opitz-Kaveggia syndrome, 305450
Phenotypes for MED12 were set to Lujan-Fryns syndrome, 309520; Ohdo syndrome, X-linked, 300895; Opitz-Kaveggia syndrome, 305450;Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders
Phenotypes for MED12 were set to Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders;Lujan-Fryns syndrome, 309520;Ohdo syndrome, X-linked, 300895;Opitz-Kaveggia syndrome, 305450
Mode of inheritance for MED12 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
MED12 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory
MED12 was created by ellenmcdonagh