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| Fetal anomalies v0.1496 | MYBPC3 | Zornitza Stark Marked gene: MYBPC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1496 | MYBPC3 | Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1496 | MYBPC3 | Zornitza Stark Classified gene: MYBPC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1496 | MYBPC3 | Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1469 | MYBPC3 |
Krithika Murali gene: MYBPC3 was added gene: MYBPC3 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to 16679492; 17937428; 19858127 Phenotypes for gene: MYBPC3 were set to Neonatal hypertrophic cardiomyopathy; Cardiomyopathy, hypertrophic, 4 - MIM#115197 Review for gene: MYBPC3 was set to GREEN Added comment: 16679492 - two unrelated neonates with severe hypertrophic cardiomyopathy caused by compound heterozygous truncating mutations in the MYBPC3 gene (no antenatal findings reported) 17937428 - 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene, diagnosed in the first 3 weeks of life, surviving individuals required cardiac transplant before age 1 19858127 - infant with fatal cardiomyopathy and skeletal myopathy due to a homozygous mutation, p.R943X Sources: Literature, Expert list |
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