Proteinuric renal disease
Gene: VPS33B
VPS33B (VPS33B, late endosome and lysosome associated)
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: VPS33B; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 18853461; Other comments: Renal dysfunction part of syndromic presentation.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Publications
- PMID: 18853461
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital myopathy
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Palmoplantar keratodermas
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Fetal anomalies
- Renal tubulopathies
- Likely inborn error of metabolism
History Filter Activity
23 Jun 2019, Gel status: 1
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
23 Jun 2019, Gel status: 1
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: VPS33B were set to
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: VPS33B was added gene: VPS33B was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: VPS33B was set to