Ehlers Danlos syndrome with a likely monogenic cause
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 12 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment 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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Lujan-Fryns syndrome, 309520
- Ohdo syndrome, X-linked, 300895
- Opitz-Kaveggia syndrome, 305450
- Tags
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- Complete
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Thoracic aortic aneurysm or dissection (GMS)
- Retinal disorders
- DDG2P
- Thoracic aortic aneurysm or dissection
- Arthrogryposis
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Fetal anomalies
- Clefting
- Familial Hirschsprung Disease
- Intellectual disability
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: MED12.
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for MED12 were set to Lujan-Fryns syndrome, 309520; Ohdo syndrome, X-linked, 300895; Opitz-Kaveggia syndrome, 305450
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for MED12 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)MED12 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)MED12 was created by ellenmcdonagh