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| Cardiomyopathy_Paediatric v1.30 | MED12 | Lucy Spencer Classified gene: MED12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.30 | MED12 | Lucy Spencer Gene: med12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.29 | MED12 |
Lucy Spencer gene: MED12 was added gene: MED12 was added to Cardiomyopathy_Paediatric. Sources: Literature 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 39045790 Phenotypes for gene: MED12 were set to Hardikar syndrome MIM#301068 Review for gene: MED12 was set to GREEN Added comment: PMID 39045790 in a cohort of 10 individuals with Hardikar syndrome, 6 had cardiomyopathy all under 15 years old. Sources: Literature |
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