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  2. Renal and urinary tract disorders
  3. VPS33B
STRs in panel
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Renal and urinary tract disorders

Gene: VPS33B

Green List (high evidence)
VPS33B (VPS33B, late endosome and lysosome associated)
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 panels

3 reviews

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 1:01 p.m.
Created: 5 Aug 2016, 1:01 p.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.279

Helen Stuart (University of Manchester)

Green List (high evidence)

Mainly tubulopathy rather than CAKUT
Created: 17 Oct 2015, 7:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis

Created: 17 Oct 2015, 7:09 p.m.

Panel version: Imported from CAKUT panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis 1
OMIM
608552
Clinvar variants
Variants in VPS33B
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Stuart: Mainly tubulopathy rather than

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 for gene: VPS33B

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: VPS33B was added gene: VPS33B was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome