LRRK2

leucine rich repeat kinase 2
OMIM: 609007, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red LRRK2 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.73

review Not set
Sources
  • Other
Phenotypes
  • Crohn disease

Green LRRK2 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.108

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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
Tags
  • missense
  • curated-variant-list

Green LRRK2 in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • LRRK2 G2019S mutation
  • {Parkinson disease 8}, OMIM:607060
Tags
  • missense
  • curated-variant-list

Red LRRK2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Parkinson disease 8, 607060

    Green LRRK2 in Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • {Parkinson disease 8}, OMIM:607060

    Green LRRK2 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease 8, Autosomal Dominant, 607060