Inherited bleeding 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
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
- OMIM
- 608552
- Clinvar variants
- Variants in VPS33B
- Penetrance
- Complete
- 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
19 Dec 2016, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
19 Dec 2016, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)VPS33B was added to Inherited bleeding disorderspanel. Source: Expert Review Green
9 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VPS33B was created by ellenmcdonagh
9 Sep 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)VPS33B was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene