This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_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
-
- KidGen_Tubulopathies v38.1.0
- Expert Review Green
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Nephrocalcinosis or nephrolithiasis
- Palmoplantar keratodermas
- CAKUT
- Likely inborn error of metabolism
- Bleeding and platelet disorders
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- DDG2P
- Proteinuric renal disease
- Congenital myopathy
- Cholestasis
- Inherited bleeding disorders
- Neonatal cholestasis
- Arthrogryposis
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: VPS33B was added gene: VPS33B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0 Mode of inheritance for gene: VPS33B was set to Unknown