Early onset and familial Parkinson's Disease
Gene: LRRK2
Information from the NHNN Neurogenetics genetic testing manual: "It has now been shown that mutations in LRRK2 are associated with reduced penetrance, thereby gene carriers may be unaffected and a clear autosomal dominant family history may not be obvious. There is also accumulating but unproven evidence that single hit mutations in the recessive genes may contribute to an individual’s parkinsonian syndrome. Therefore, giving guidance on gene testing is complicated."Created: 10 Jun 2016, 10:35 a.m.
Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 9:26 a.m.
Publications for LRRK2 were set to 28395805;28395804;28395803;28395802
Phenotypes for gene LRRK2 were set to Parkinson disease 8, 607060;Parkinson Disease, Dominant;Parkinson Disease 8, Autosomal Dominant;PARKINSON DISEASE 8, AUTOSOMAL DOMINANT;LRRK2 G2019S mutation;Autosomal dominant Parkinson's disease
Mode of pathogenicity for LRRK2 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Phenotypes for LRRK2 were set to Parkinson disease 8, 607060; Parkinson Disease, Dominant; Parkinson Disease 8, Autosomal Dominant; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; LRRK2 G2019S mutation; Autosomal dominant Parkinson's disease
This gene has been classified as Green List (High Evidence).
LRRK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene LRRK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LRRK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: UKGTN
Model of inheritance for gene LRRK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LRRK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene LRRK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
LRRK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert
LRRK2 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert