| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.335 | MED12 | Zornitza Stark Marked gene: MED12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.335 | MED12 | Zornitza Stark Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.335 | MED12 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.334 | MED12 | Zornitza Stark Classified gene: MED12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.334 | MED12 | Zornitza Stark Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.333 | MED12 | Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068, Lujan-Fryns syndrome, MIM# 309520, Ohdo syndrome, X-linked, MIM# 300895; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.315 | MED12 |
Ling Sun 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 Added comment: 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: Other |
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