LRRK1

leucine rich repeat kinase 1
OMIM: 610986, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green LRRK1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Osteosclerotic metaphyseal dysplasia (OSMD), OMIM: 615198
    • Osteosclerotic metaphyseal dysplasia, MONDO:0014080
    Amber LRRK1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Osteosclerotic metaphyseal dysplasia, OMIM:615198
    Red LRRK1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red