| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.65 | NAA10 | Rylee Peters Marked gene: NAA10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.65 | NAA10 | Rylee Peters Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.65 | NAA10 | Rylee Peters Classified gene: NAA10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.65 | NAA10 | Rylee Peters Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.64 | NAA10 |
Rylee Peters gene: NAA10 was added gene: NAA10 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: NAA10 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: NAA10 were set to 40304357; 40234403; 38335407; 37441566; 37130971; 33335012; 32864149 Phenotypes for gene: NAA10 were set to NAA10-related syndrome, MONDO:0100124 Review for gene: NAA10 was set to GREEN Added comment: NAA10-related neurodevelopmental syndrome phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities. Multiple families also reported with early‑onset cardiomyopathy, predominantly hypertrophic cardiopmyopathy phenotype. Sources: Literature |
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