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| Cardiomyopathy_Paediatric v1.28 | MAP3K7 | Lucy Spencer Classified gene: MAP3K7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.28 | MAP3K7 | Lucy Spencer Gene: map3k7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.27 | MAP3K7 |
Lucy Spencer gene: MAP3K7 was added gene: MAP3K7 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP3K7 were set to 35730652; 40814318; 40909427 Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome MIM#157800 Review for gene: MAP3K7 was set to GREEN Added comment: PMID 35730652 in a cohort of 12 patients with cardiospondylocarpofacial syndrome, 4 had cardiomyopathy (HCM or DCM). 3 were very early onset, the 4th was an adult at the time of testing but unclear what the age of onset was. PMID 40814318, 40909427 report a newborn and a 5yo with CSCF syndrome associated with severe early onset DCM. Sources: Literature |
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