NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit

Gene info

Synonyms

None

Previous symbol

NARG1

External ID

HGNC: 30782
Entrez Gene: 80155
Ensembl: ENSG00000164134
UCSC: uc003ihu.2
OMIM: 608000
UniProtKB: Q9BXJ9

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot
  • Atrial septal defect

Extra Cardiac Phenotype

Impaired intellectual development, delayed speech and motor milestones, autism spectrum disorder, mild craniofacial dysmorphism, seizures

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1922088

Variant info

Clinvar

NAA15

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., et al. (2019). Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics, 28(17), 2900–2919. https://doi.org/10.1093/hmg/ddz111 DOI:10.1093/hmg/ddz111 PMID:31127942