Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
The gene STK36 (HGNC:17209) has been implicated as part of the phenotypic continuum observed in patients with Zimmermann-Laband syndrome (MONDO_0000200). In a recent case report of a Lebanese proband diagnosed with Temple-Baraitser Syndrome—which is increasingly recognized to overlap with Zimmermann-Laband syndrome—a single missense variant in STK36, reported as c.2131A>C (p.Arg711Pro), was identified (PMID:27282200). No additional segregation data (e.g., affected relatives) were provided, and the inheritance pattern appears consistent with an autosomal dominant mechanism. This limited genetic evidence suggests a potential, but not definitively proven, role for STK36 in the disorder.
Although functional assessment studies in the cited work largely focused on KCNH1, no STK36-specific experimental evidence has been presented. Nonetheless, the inclusion of STK36 in multi-patient investigations supports its candidacy as a genetic modifier in this syndrome spectrum. The current data, while limited to a single proband with a predicted deleterious missense change, supports careful incorporation of STK36 genetic testing into diagnostic decision‑making. Further studies are warranted to expand the genetic and functional evidence and to firmly establish the clinical validity of STK36 for Zimmermann-Laband syndrome.
Gene–Disease AssociationLimitedA single proband with a missense variant (PMID:27282200) and no segregation or robust experimental data supports the association. Genetic EvidenceLimitedOnly one missense variant in STK36, c.2131A>C (p.Arg711Pro), has been reported with predicted deleterious impact and lacks additional segregation evidence (PMID:27282200). Functional EvidenceLimitedNo direct STK36 functional studies were presented; evidence is extrapolated from broader multi-gene analyses. |