Nephrocalcinosis or nephrolithiasis
Gene: VPS33BEnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note >40 cases on HGMD for ARC (OMIM 208085) phenotype which has association with Nephrocalcinosis in some patientsCreated: 7 Mar 2022, 11:09 p.m. | Last Modified: 7 Mar 2022, 11:09 p.m.
Panel Version: 2.27
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:32 p.m. | Last Modified: 20 Oct 2020, 3:32 p.m.
Panel Version: 2.15
Rebecca Foulger (Genomics England curator)
Added to panel as Green gene as advised by Helen Brittain, Genomics England Clinical Team. This rating should be reviewed by GLHs at the date of next GMS panel update. ARC phenotype (MIM:208085) is appropriate for the panel, and sufficient cases to support causation (see also the other ARC gene, VIPAS39).
Sources: LiteratureCreated: 21 Apr 2020, 4:01 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
- 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
- Intellectual disability
- 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)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: vps33b has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: VPS33B.
Entity classified by Genomics England curator
Rebecca Foulger (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
Rebecca Foulger (Genomics England curator)gene: VPS33B was added gene: VPS33B was added to Nephrocalcinosis or nephrolithiasis. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 15052268; 22753090 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085