NADSYN1 NAD synthetase 1

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 29832
Entrez Gene: 55191
Ensembl: ENSG00000172890
UCSC: uc001oqn.4
OMIM: 608285
UniProtKB: Q6IA69

Disease info

Disease

None

CHD Phenotype

  • Double outlet right ventricle
  • Transposition of the great arteries
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Absent left ventricle and pulmonary trunk
  • Right ventricular outlet to the aorta
  • Hypoplastic mitral valve with borderline hypoplastic left ventricle
  • Small bicuspid aortic valve and tubular hyperplasia of the left aortic arch with coarctation
  • Anomalous origin of the left coronary artery from the right pulmonary artery

Extra Cardiac Phenotype

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1926164

Variant info

Clinvar

NADSYN1

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

Genome browser powered by igv.js

Selected References

  1. Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. R., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., & Dunwoodie, S. L. (2020). Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. The American Journal of Human Genetics, 106(1), 129–136. https://doi.org/10.1016/j.ajhg.2019.12.006 DOI:10.1016/j.ajhg.2019.12.006 PMID:31883644