RAB33B

RAB33B, member RAS oncogene family
OMIM: 605950, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RAB33B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-McCort dysplasia 2 (MIM#615222)

Green RAB33B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
Phenotypes
  • Smith-McCort dysplasia 2 615222

Green RAB33B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Smith-McCort dysplasia 2, 615222 (3)

Red RAB33B in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Smith-McCort dysplasia 2, OMIM:615222
  • Smith-McCort dysplasia 2, MONDO:0014087

Green RAB33B in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Smith-McCort dysplasia 2, 615222 (3)