KLHL6

Genetic findings for KLHL6 in POEMS Syndrome

Variants (1)

VariantTypeFrequencySignificance
Recurrently mutated (somatic)somaticRecurrent in WES cohortsOne of 7 recurrently mutated genes identified by Nagao et al. (2019) in POEMS plasma cells. KLHL6 is involved in B-cell receptor signaling and germinal center B-cell formation. Mutations may contribute to aberrant B-cell differentiation.

Clinical implications

Recurrently mutated (somatic)

Research finding — no current clinical application.

Also found in: Diffuse large B-cell lymphoma (~5%)