Skeletal dysplasia
Gene: RAB33B
spondylo-epi-(meta)-physeal dysplasias gp of SD. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-McCort dysplasia 2 615222
Comment on list classification: 5 cases reported.Created: 17 Jul 2019, 1:04 p.m. | Last Modified: 17 Jul 2019, 1:04 p.m.
Panel Version: 1.184
Associated with Smith-McCort dysplasia 2 (615222) in OMIM.
PMID: 22652534 - Alshammari et al. (2012) - 1 family - a consanguineous Saudi family segregating Smith-McCort syndrome. Identified a homozygous missense mutation in the RAB33B gene (K46Q). Immunoblot analysis showed severe deficiency of RAB33B in patient cells compared with control cells, and patient fibroblasts also displayed a marked reduction in the immunofluorescence signal corresponding to RAB33B but comparable signal intensity to the Golgi marker giantin.
PMID: 16470731/23042644 - Neumann et al. (2006)/Dupuis et al. (2013) - 1 case. 22-year-old Turkish man with Smith-McCort syndrome-2. Identified a homozygous missense mutation in the RAB33B gene (N148K;). By Western blot analysis and immunofluorescence studies, Dupuis et al. (2013) found marked reduction of the RAB33B protein.
PMID: 28127940 - Salian et al. (2017) - 3 families. 3 SMC patients with four novel pathogenic variants in RAB33B, including homozygosity for c.211C>T (p.R71*), homozygosity for c.365T>C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs*58) and c.490C>T (p.Q164*). The mutations segregated with the disorder in each family. Skeletal survey of all three patients showed predominant abnormalities of the spine and pelvic bones, mildly affected epi‐metaphyses of the long bones, and brachydactyly.
5 cases in total.Created: 8 May 2019, 3:17 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RAB33B; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM . At least two variants reportedCreated: 29 Jul 2016, 1:40 p.m.
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-McCort dysplasia 2 615222
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: RAB33B were set to
Gene: rab33b has been classified as Green List (High Evidence).
Added phenotypes Smith-McCort dysplasia 2 615222 for gene: RAB33B
Source NHS GMS was added to RAB33B.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for RAB33B were set to Smith-McCort dysplasia 2 615222
Mode of inheritance for RAB33B was changed to BIALLELIC, autosomal or pseudoautosomal
RAB33B was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
RAB33B was added to Unexplained skeletal dysplasiapanel. Sources:
RAB33B was created by sleigh