Congenital Heart Defect
Gene: MED12EnsemblGeneIds (GRCh38): ENSG00000184634
EnsemblGeneIds (GRCh37): ENSG00000184634
OMIM: 300188, Gene2Phenotype
MED12 is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CHD is a feature of several MED12-related disorders.Created: 22 Nov 2023, 3:13 a.m. | Last Modified: 22 Nov 2023, 3:13 a.m.
Panel Version: 0.333
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
Hardikar syndrome, MIM# 301068; Lujan-Fryns syndrome, MIM# 309520; Ohdo syndrome, X-linked, MIM# 300895
Ling Sun (Other)
MED12-associated syndromes or genetic conditions resulting from MED12 loss of function variants can encompass aortic and heart conditions within their broader diagnostic spectrum. For instance, while not universally present in all individuals with Lujan-Fryns syndrome, some may indeed exhibit heart abnormalities as an integral part of their overall clinical profile (PMID: 18973276). Additionally, congenital heart defects and aortic dilation have been sporadically reported in patients with MED12-syndromic XLID. However, these cardiac issues tend to be more consistently observed in females with Hardikar syndrome, with aortic coarctation being the most prevalent cardiac abnormality in this group (PMID: 20301719).
Moreover, research has demonstrated that mice with a cardiac-specific deletion of the Med12 gene experience disruptions in calcium cycling, disturbances in cardiac electrical activity, and ultimately develop dilated cardiomyopathy (PMID: 2872470). This suggests a critical role for MED12 in cardiac function and highlights its relevance in both research and clinical contexts.
[Submitted on behalf of Essra Bartlett 20/11/2023]
Sources: OtherCreated: 20 Nov 2023, 10:30 a.m.
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
Dilated cardiomyopathy (DCM); left ventricular non-compaction (LVNC); dilated cardiomyopathy (DCM); arrhythmia; ventricular septal defect (VSD)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hardikar syndrome, MIM# 301068
- Lujan-Fryns syndrome, MIM# 309520
- Ohdo syndrome, X-linked, MIM# 300895
- OMIM
- 300188
- Clinvar variants
- Variants in MED12
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- 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 Dilated cardiomyopathy (DCM); left ventricular non-compaction (LVNC); dilated cardiomyopathy (DCM); arrhythmia; ventricular septal defect (VSD) to Hardikar syndrome, MIM# 301068; Lujan-Fryns syndrome, MIM# 309520; Ohdo syndrome, X-linked, MIM# 300895
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: med12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Ling Sun (Other)gene: MED12 was added gene: MED12 was added to Congenital Heart Defect. Sources: Other Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MED12 were set to 32682435; 18973276; 31255603; 28724790; 20301719 Phenotypes for gene: MED12 were set to Dilated cardiomyopathy (DCM); left ventricular non-compaction (LVNC); dilated cardiomyopathy (DCM); arrhythmia; ventricular septal defect (VSD) Penetrance for gene: MED12 were set to unknown Mode of pathogenicity for gene: MED12 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MED12 was set to AMBER