HNRNPK heterogeneous nuclear ribonucleoprotein K

Gene info

Synonyms

transformation upregulated nuclear protein

Previous symbol

HNRPK

External ID

HGNC: 5044
Entrez Gene: 3190
Ensembl: ENSG00000165119
UCSC: uc004anl.5
OMIM: 600712
UniProtKB: P61978

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Bicuspid aortic valve
  • Pulmonic stenosis
  • Double outlet right ventricle

Extra Cardiac Phenotype

Dysmorfic facies, Neurodevelopmental delay, Sensorineural deafness, Omphalocele, digit and limb deformity

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No mouse models reporting CHD status

MGI ID

99894

Variant info

Clinvar

HNRNPK

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

Genome browser powered by igv.js

Selected References

  1. Au, P. Y. B., Goedhart, C., Ferguson, M., Breckpot, J., Devriendt, K., Wierenga, K., Fanning, E., Grange, D. K., Graham, G. E., Galarreta, C., Jones, M. C., Kini, U., Stewart, H., Parboosingh, J. S., Kline, A. D., & Innes, A. M. (2018). Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature. European Journal of Human Genetics, 26(9), 1272–1281. https://doi.org/10.1038/s41431-018-0187-2 DOI:10.1038/s41431-018-0187-2 PMID:29904177
  2. Au, P. Y. B., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., Ferguson, M., Valle, D., Parboosingh, J. S., Sobreira, N., Innes, A. M., & Kline, A. D. (2015). GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK. Human Mutation, 36(10), 1009–1014. Portico. https://doi.org/10.1002/humu.22837 DOI:10.1002/humu.22837 PMID:26173930
  3. Lange, L., Pagnamenta, A. T., Lise, S., Clasper, S., Stewart, H., Akha, E. S., Quaghebeur, G., Knight, S. J. L., Keays, D. A., Taylor, J. C., & Kini, U. (2016). Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia. Clinical Genetics, 90(3), 258–262. Portico. https://doi.org/10.1111/cge.12773 DOI:10.1111/cge.12773 PMID:26954065
  4. Okamoto, N. (2019). Okamoto syndrome has features overlapping with Au–Kline syndrome and is caused by HNRNPK mutation. American Journal of Medical Genetics Part A, 179(5), 822–826. Portico. https://doi.org/10.1002/ajmg.a.61079 DOI:10.1002/ajmg.a.61079 PMID:30793470