Adult onset dystonia, chorea or related movement disorder
Gene: 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.
Phenotypes for gene: LRRK2 were changed from 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 to {Parkinson disease 8}, OMIM:607060
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