Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: LRRK2EnsemblGeneIds (GRCh38): ENSG00000188906
EnsemblGeneIds (GRCh37): ENSG00000188906
OMIM: 609007, Gene2Phenotype
LRRK2 is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
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, 10:37 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, 9:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Parkinson disease 8, 607060
- Parkinson Disease, Dominant
- Parkinson Disease 8, Autosomal Dominant
- PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
- OMIM
- 609007
- Clinvar variants
- Variants in LRRK2
- Penetrance
- Incomplete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for LRRK2 were set to 28395805;28395804;28395803;28395802
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for LRRK2 was changed to Other - please provide details in the comments
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene LRRK2 were set to Parkinson disease 8, 607060;Parkinson Disease, Dominant;Parkinson Disease 8, Autosomal Dominant;PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LRRK2 were set to Parkinson disease 8, 607060; Parkinson Disease, Dominant; Parkinson Disease 8, Autosomal Dominant; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRRK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LRRK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene LRRK2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)LRRK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)LRRK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)LRRK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert