HYAL2 hyaluronidase 2

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. Muggenthaler, M. M. A., Chowdhury, B., Hasan, S. N., Cross, H. E., Mark, B., Harlalka, G. V., Patton, M. A., Ishida, M., Behr, E. R., Sharma, S., Zahka, K., Faqeih, E., Blakley, B., Jackson, M., Lees, M., Dolinsky, V., Cross, L., Stanier, P., Salter, C., … Chioza, B. A. (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLOS Genetics, 13(1), e1006470. https://doi.org/10.1371/journal.pgen.1006470 DOI:10.1371/journal.pgen.1006470 PMID:28081210
2. Fasham, J., Lin, S., Ghosh, P., Radio, F. C., Farrow, E. G., Thiffault, I., Kussman, J., Zhou, D., Hemming, R., Zahka, K., Chioza, B. A., Rawlins, L. E., Wenger, O. K., Gunning, A. C., Pizzi, S., Onesimo, R., Zampino, G., Barker, E., Osawa, N., … Baple, E. L. (2022). Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genetics in Medicine, 24(3), 631–644. https://doi.org/10.1016/j.gim.2021.10.014 DOI:10.1016/j.gim.2021.10.014 PMID:34906488