This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
Ivone Leong (Genomics England Curator)
Comment when marking as ready: Here is a test commentCreated: 9 May 2019, 9:43 a.m.
Details
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- None
- 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
9 May 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: vps33b has been classified as Green List (High Evidence).
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)VPS33B was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)VPS33B was created by Sarah Leigh