KYNU kynureninase

Gene info

Synonyms

None

Previous symbol

None

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

Extra Cardiac Phenotype

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

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

Homozygous null mouse has CHD

MGI ID

Variant info

Clinvar

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., … 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 PMID:31923704
  2. Shi, H., Enriquez, A., Rapadas, M., Martin, E. M. M. A., Wang, R., Moreau, J., … 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