Bleeding and Platelet Disorders
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
- There's no clear geno-pheno correlation. Missense can cause any of the phenos (FGS1, LS, Ohdo and nonsyndromic ID; Charzewska 2018).
- de novo PTCs cause female-specific Hardikar syndrome, very skewed X inactivation (Li, 2020)
- Several affected female carriers have been reported: usually with milder clinical manifestation, several families showed skewed X-chr inactivation pattern in affected female carriers (Wang 2020). However some families had no correlation between clinical outcome and X-chr inactivation in the blood samples (Charzewska 2018, Prontera 2016).Created: 23 Mar 2021, 4:42 a.m. | Last Modified: 23 Mar 2021, 4:42 a.m.
Panel Version: 0.6863
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included here due to association with aortic aneurysm.Created: 15 Aug 2020, 6:36 a.m. | Last Modified: 15 Aug 2020, 6:36 a.m.
Panel Version: 0.110
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lujan-Fryns syndrome, MIM# 309520
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
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- None
- 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
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 Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MED12 was set to Unknown