Renal tubulopathies
Gene: VPS33BEnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 panels
2 reviews
Catherine Snow (Genomics England)
Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:26 a.m. | Last Modified: 16 Oct 2020, 8:26 a.m.
Panel Version: 2.20
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
Comment on list classification: Changing rating from red to green. Sufficient cases and Renal tubular acidosis and Renal Fanconi syndrome are a feature of this syndromeCreated: 30 Mar 2020, 2:26 p.m. | Last Modified: 30 Mar 2020, 2:26 p.m.
Panel Version: 2.13
Associated with Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 (AR) in OMIM.
Many reported cases listed in OMIM. Renal tubular acidosis and Renal Fanconi syndrome are listed as clinical features. VIPAS39 & VPS33B form a complex.
Sources: LiteratureCreated: 30 Mar 2020, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital myopathy
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Fetal anomalies
- 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
- Renal tubulopathies
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: VPS33B.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to VPS33B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: VPS33B.
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: vps33b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: vps33b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: VPS33B was added gene: VPS33B was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 8151641; 16155421; 16896922 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 Review for gene: VPS33B was set to GREEN