| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3563 | NAA16 | Zornitza Stark Marked gene: NAA16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3563 | NAA16 | Zornitza Stark Gene: naa16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3556 | NAA16 | Lucy Spencer Classified gene: NAA16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3556 | NAA16 | Lucy Spencer Gene: naa16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3555 | NAA16 |
Lucy Spencer gene: NAA16 was added gene: NAA16 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NAA16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAA16 were set to 41148812; 23665959; 28991257 Phenotypes for gene: NAA16 were set to Congenital heart disease, MONDO:0005453, NAA16-related Review for gene: NAA16 was set to AMBER Added comment: NAA16 is part of the auxiliary subunit of the NatA complex along with NAA15. this complex is responsible for acetylating a broad range of proteins following initiator methionine removal. NAA15 and NAA10 which is part of the catalytic subunit of the complex have previously been associated with neurodevelopmental disorders, including CHD for NAA15. PMID 41148812 3 individuals from 3 unrelated families with heterozygous NAA16 variants (p.R70C missense de novo; p.L765fs and p.E630fs frameshifts unclear inheritance) presenting with congenital heart disease (atrial septal defect, Tetralogy of Fallot, conotruncal defects). These 3 families were identified in a large cohort from the Paediatric Cardiac Genomic Consortium (PMID: 23665959, PMID: 28991257). One of the individuals with a frameshift is also listed as having a neurodevelopmental phenotype PMID: 28991257. Arg70Cys has 24 hets in gnomad and the gene is not very constrained for LOF. PMID 41148812 Drosophila cardiac‑specific rescue assay shows loss‑of‑function for the missense variant (unable to rescue the phenotype), supporting pathogenicity. Sources: Literature |
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