LZTR1 leucine zipper like post translational regulator 1

Gene info

Disease info

Animal model

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

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 on LZTR1 variants 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