LRRK2
HGNC ↗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).
Curated publications
The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin.
LRRK2 p.Gly2019Ser Parkinson's disease — age at onset by ancestry
Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease
LRRK2 biallelic loss-of-function Mendelian interstitial lung disease
Frequently asked questions
How is a LRRK2-related condition inherited?+
Dominant (Parkinson, incomplete penetrance); recessive for the emerging pulmonary phenotype
What is the clinical spectrum associated with LRRK2?+
Parkinson disease; interstitial lung disease in biallelic forms (emerging)
What is the management associated with LRRK2?+
Symptomatic management; LRRK2 inhibitors in clinical development.
How many Geno'X publications cover the LRRK2 gene?+
2 publication(s) on LRRK2 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics).
