LZTR1 leucine zipper like transcription regulator 1

Gene info



Previous symbol


External ID

HGNC: 6742
Entrez Gene: 8216
Ensembl: ENSG00000099949
UCSC: uc002zto.4
OMIM: 600574
UniProtKB: Q8N653

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis

Extra Cardiac Phenotype

Neurodevelopment delay or learning disabilities, short stature

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mice homozygous for the null allele exhibit embryonic lethality. Heterozygotes exhibit Noonan syndrome phenotypes.


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 LZTR1: BED file

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Selected References

  1. Scott, A., Di Giosaffatte, N., Pinna, V., Daniele, P., Corno, S., D’Ambrosio, V., Andreucci, E., Marozza, A., Sirchia, F., Tortora, G., Mangiameli, D., Di Marco, C., Romagnoli, M., Donati, I., Zonta, A., Grosso, E., Naretto, V. G., Mastromoro, G., Versacci, P., … De Luca, A. (2021). When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. Genetics in Medicine, 23(6), 1116–1124. https://doi.org/10.1038/s41436-020-01093-7 DOI:10.1038/s41436-020-01093-7 PMID:33568805
  2. Chinton, J., Huckstadt, V., Mucciolo, M., Lepri, F., Novelli, A., Gravina, L. P., & Obregon, M. G. (2019). Providing more evidence onLZTR1variants in Noonan syndrome patients. American Journal of Medical Genetics Part A, 182(2), 409–414. Portico. https://doi.org/10.1002/ajmg.a.61445 DOI:10.1002/ajmg.a.61445 PMID:31825158
  3. Umeki, I., Niihori, T., Abe, T., Kanno, S., Okamoto, N., Mizuno, S., Kurosawa, K., Nagasaki, K., Yoshida, M., Ohashi, H., Inoue, S., Matsubara, Y., Fujiwara, I., Kure, S., & Aoki, Y. (2018). Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes. Human Genetics, 138(1), 21–35. https://doi.org/10.1007/s00439-018-1951-7 DOI:10.1007/s00439-018-1951-7 PMID:30368668