SETD5 SET domain containing 5

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. Szczałuba, K., Brzezinska, M., Kot, J., Rydzanicz, M., Walczak, A., Stawiński, P., Werner, B., & Płoski, R. (2016). <i>SETD5</i> loss‐of‐function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. American Journal of Medical Genetics Part A, 170(9), 2322–2327. Portico. https://doi.org/10.1002/ajmg.a.37832 DOI:10.1002/ajmg.a.37832 PMID:27375234
2. Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro‐Dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., … Tang, S. (2018). Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Clinical Genetics, 93(4), 752–761. Portico. https://doi.org/10.1111/cge.13132 DOI:10.1111/cge.13132 PMID:28881385