This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_Tubulopathies v38.1.0
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- None
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- CAKUT
- Bleeding and platelet disorders
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Intellectual disability
- Proteinuric renal disease
- Congenital myopathy
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
History Filter Activity
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: VPS33B was added gene: VPS33B was added to Kidneyome_SuperPanel_VCGS. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: VPS33B was set to Unknown