RAB33B

RAB33B, member RAS oncogene family
OMIM: 605950, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RAB33B in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
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
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Smith-McCort dysplasia 2 615222
    Green RAB33B 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 Green
    • Expert list
    Phenotypes
    • Smith-McCort dysplasia 2, OMIM:615222
    • Smith-McCort dysplasia 2, MONDO:0014087