| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v1.28 | NAA10 | Rylee Peters Marked gene: NAA10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.28 | NAA10 | Rylee Peters Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.28 | NAA10 | Rylee Peters Classified gene: NAA10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.28 | NAA10 | Rylee Peters Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v1.27 | NAA10 |
Rylee Peters gene: NAA10 was added gene: NAA10 was added to Congenital Heart Defect. 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 37130971 Phenotypes for gene: NAA10 were set to NAA10-related syndrome MONDO:0100124 Review for gene: NAA10 was set to GREEN Added comment: PMID: 37130971 – Cohort of individuals with 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. Congenital heart defects including (ASD, VSD) occur in >10 individuals. Sources: Literature |
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