Complex Parkinsonism (includes pallido-pyramidal syndromes)

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

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

14 Aug 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LRRK2 were set to 28395805;28395804;28395803;28395802

10 Jun 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for LRRK2 was changed to Other - please provide details in the comments

10 Jun 2016, Gel status: 4

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

10 Jun 2016, Gel status: 4

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

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jul 2015, Gel status: 3

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

24 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LRRK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: UKGTN

24 Jul 2015, Gel status: 2

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

24 Jul 2015, Gel status: 2

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

24 Jul 2015, Gel status: 1

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

24 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LRRK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert