Mutations in EXOSC5 may be associated with sudden cardiac death.

Chromosome: 19q13.2

Gene: EXOSC5 (exosome component 5)

Function: part f the RNA exosome (involved in the processing, degradation and regulated turnover of RNA)


Inheritance: autosomal recessive


Clinical features:

(1) developmental delay

(2) hypotonia

(3) cerebellar abnormalities

(4) dysmorphic facies with microcephaly

(5) cardiac conduction abnormalities (complex heart block, sinus node dysfunction, intraventricular conduction delay) and/or ventricular tachycardia

6) hypomyelination


The risk of cardiac conduction defects and sudden cardiac death is greater in individuals with biallelic variants.

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