RNF213

In brief: RNF213 is the gene that encodes ring finger protein 213. The gene itself is distinct from a particular RNF213 variant, such as p.R4810K.

Use in moyamoya disease

Some RNF213 variants are associated with susceptibility to moyamoya, especially in some East Asian populations. The p.R4810K variant is the best-known association. Carrying a susceptibility variant does not mean that disease is certain, and people without the variant can develop moyamoya. A result is not a stand-alone diagnostic or prognostic test and cannot reliably predict the age of onset, affected side, symptoms, or response to surgery. [1]

Testing may be considered in a genetics consultation when the result could clarify a family question or guide counseling. Current European expert consensus advises against systematic p.R4810K screening in every patient regardless of ethnicity. [2]

Clinical detail

Variant interpretation should include ancestry, allele frequency, family segregation, phenotype, and laboratory classification. A consumer genetic result should be clinically confirmed before medical decisions are made.