Gene index

2 article(s) in the watch · Constitutional genetics

LRRK2 encodes a kinase whose gain-of-function variants (including G2019S) are a common cause of autosomal-dominant Parkinson disease with incomplete penetrance. Biallelic loss-of-function variants have also recently been associated with interstitial lung disease (emerging finding).

InheritanceDominant (Parkinson, incomplete penetrance); recessive for the emerging pulmonary phenotype
Clinical spectrumParkinson disease; interstitial lung disease in biallelic forms (emerging)
ManagementSymptomatic management; LRRK2 inhibitors in clinical development.

Curated publications