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Early-onset Parkinson disease

Gene: LRRK2

Green List (high evidence)
LRRK2 (leucine rich repeat kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000188906
EnsemblGeneIds (GRCh37): ENSG00000188906
OMIM: 609007, Gene2Phenotype
LRRK2 is in 6 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

DEFINITIVE gene-disease association on ClinGen - https://search.clinicalgenome.org/CCID:005305

"The mechanism of pathogenicity appears to be gain-of-function (GOF) with augmented kinase activity (PMID: 16269541). The gain-of-function mechanism is also underlined by the lack of Parkinson´s disease in carriers of truncating variants."
Created: 9 Apr 2024, 4:49 a.m. | Last Modified: 9 Apr 2024, 4:49 a.m.
Panel Version: 0.295

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Parkinson disease (MONDO:0005180)

Publications

  • PMID: 1626954
  • https://search.clinicalgenome.org/CCID:005305

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 9 Apr 2024, 4:49 a.m.
Last Modified: 9 Apr 2024, 4:49 a.m.
Panel version: 0.295

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established Parkinson's disease gene.
Created: 25 Aug 2023, 1:42 a.m. | Last Modified: 25 Aug 2023, 1:42 a.m.
Panel Version: 0.243

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant Parkinson disease 8 MONDO:0011764; obsolete hereditary late onset Parkinson disease MONDO:0018466; Parkinson disease MONDO:0005180

Publications

Created: 25 Aug 2023, 1:42 a.m.
Last Modified: 25 Aug 2023, 1:42 a.m.
Panel version: 0.243

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
609007
Clinvar variants
Variants in LRRK2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRRK2 was added gene: LRRK2 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: LRRK2 was set to Unknown