RAB34

RAB34, member RAS oncogene family
OMIM: 610917, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber RAB34 in Malformations of cortical development


Level 2: Neurology
Version 8.16
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Cerebral malformation
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XX, OMIM:620718
    • orofaciodigital syndrome 20, MONDO:0958230
    Amber RAB34 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.35
    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 Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XX, OMIM:620718
    • orofaciodigital syndrome 20, MONDO:0958230
    Tags
    • Q4_26_promote_green
    Green RAB34 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.31
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Orofaciodigital syndrome XX, OMIM:620718
    Green RAB34 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RAB34-related orofaciodigital syndrome
    Amber RAB34 in Clefting


    Level 2: Musculoskeletal
    Version 7.22
    Latest signed off version: v7.8 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XX, OMIM:620718
    • orofaciodigital syndrome 20, MONDO:0958230
    Tags
    • Q4_26_promote_green
    Amber RAB34 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 7.5
    Latest signed off version: v7.1 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Orofaciodigital syndrome XX, OMIM:620718
    • orofaciodigital syndrome 20, MONDO:0958230
    Tags
    • Q4_26_promote_green