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 10.3
Latest signed off version: v10.0 (12 Aug 2026)

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 8.4
    Latest signed off version: v8.0 (12 Aug 2026)

    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 11.13
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Red