HYAL2 hyaluronidase 2

Gene info

Synonyms

LuCa-2, LUCA2

Previous symbol

None

External ID

HGNC: 5321
Entrez Gene: 8692
Ensembl: ENSG00000068001
UCSC: uc003czv.4
OMIM: 603551
UniProtKB: Q12891

Disease info

Disease

None

CHD Phenotype

  • Cor triatriatum
  • Ventricular septal defect

Extra Cardiac Phenotype

Orofacial clefting, facial dysmorphism, ocular abnormalities

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a knock-out allele exhibit cor triatriatum sinistrum (incompletely penetrant)

MGI ID

1196334

Variant info

Clinvar

HYAL2

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

No variant passing our criteria was found for HYAL2.

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