Adult onset movement disorderGene: LRRK2
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Source NHS GMS was added to LRRK2.
Source London North GLH was added to LRRK2.
gene: LRRK2 was added gene: LRRK2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRRK2 were set to 28395803; 28395805; 27090875; 25391693; 28395802; 28395804 Phenotypes for gene: LRRK2 were set to LRRK2 G2019S mutation; Parkinson Disease, Dominant; Parkinson disease 8, 607060; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; Autosomal dominant Parkinson's disease; Parkinson Disease 8, Autosomal Dominant Mode of pathogenicity for gene: LRRK2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments