KYNU kynureninase

Gene info



Previous symbol


External ID

HGNC: 6469
Entrez Gene: 8942
Ensembl: ENSG00000115919
UCSC: uc002tvl.4
OMIM: 605197
UniProtKB: Q16719

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Tetralogy of fallot
  • Hypoplastic left heart syndrome
  • Anomalous left coronary artery from the pulmonary artery
  • Mitral stenosis
  • Abnormal fusion of right posterior semicircular canal
  • Pulmonary vein stenosis
  • Aortic hypoplasia
  • Dilatation of the pulmonary trunk
  • Ductus arteriosus

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental delay, Failure to thrive, Renal defects, Vertebral defects, digit and limb defects

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD


Variant info


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 or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for KYNU: BED file

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Selected References

  1. Ehmke, N., Cusmano-Ozog, K., Koenig, R., Holtgrewe, M., Nur, B., Mihci, E., Babcock, H., Gonzaga-Jauregui, C., Overton, J. D., Xiao, J., Martinez, A. F., Muenke, M., Balzer, A., Jochim, J., El Choubassi, N., Fischer-Zirnsak, B., Huber, C., Kornak, U., Elsea, S. H., … Ferreira, C. R. (2020). Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone, 133, 115219. DOI:10.1016/j.bone.2019.115219
  2. Shi, H., Enriquez, A., Rapadas, M., Martin, E. M. M. A., Wang, R., Moreau, J., Lim, C. K., Szot, J. O., Ip, E., Hughes, J. N., Sugimoto, K., Humphreys, D. T., McInerney-Leo, A. M., Leo, P. J., Maghzal, G. J., Halliday, J., Smith, J., Colley, A., Mark, P. R., … Dunwoodie, S. L. (2017). NAD Deficiency, Congenital Malformations, and Niacin Supplementation. New England Journal of Medicine, 377(6), 544–552. DOI:10.1056/NEJMoa1616361 PMID:28792876
  3. Szot, J. O., Slavotinek, A., Chong, K., Brandau, O., Nezarati, M., Cueto‐González, A. M., Patel, M. S., Devine, W. P., Rego, S., Acyinena, A. P., Shannon, P., Myles‐Reid, D., Blaser, S., Mieghem, T. V., Yavuz‐Kienle, H., Skladny, H., Miller, K., Riera, M. D. T., … Martínez, S. A. (2021). New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human Mutation, 42(7), 862–876. Portico. DOI:10.1002/humu.24211 PMID:33942433