RAB33B

RAB33B, member RAS oncogene family
OMIM: 605950, Gene2Phenotype

3 panels

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

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Smith-McCort dysplasia 2, OMIM:615222
    • Smith-McCort dysplasia 2, MONDO:0014087
    Green RAB33B in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Smith-McCort dysplasia 2, 615222