This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Arthrogryposis, renaldysfunction, andcholestasis 1, 208085
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- CAKUT
- Congenital myopathy
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Renal tubulopathies
- Cholestasis
- Nephrocalcinosis or nephrolithiasis
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- Inherited bleeding disorders
- Neonatal cholestasis
- Likely inborn error of metabolism
- Arthrogryposis
- Fetal anomalies
- Proteinuric renal disease
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)VPS33B was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)VPS33B was created by rfoulger