RSG1

REM2 and RAB like small GTPase 1
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber RSG1 in Limb disorders


Level 2: Musculoskeletal
Version 7.29
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ciliopathy, MONDO:0005308
    • polydactyly, MONDO:0021003
    Tags
    • Q2_26_promote_green
    Green RSG1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.189
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ciliopathy, MONDO:0005308
    Tags
    • new-gene-name
    • gene-checked
    Amber RSG1 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.12
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ciliopathy, MONDO:0005308
    • polydactyly, MONDO:0021003
    Tags
    • Q2_26_promote_green