CAKUT
Gene: VPS33B

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

4 reviews

Catherine Snow (Genomics England)

Comment on list classification: Downgraded following identification by expert review as VPS33B is a tubulopathy gene.
Created: 21 May 2020, 12:56 p.m. | Last Modified: 21 May 2020, 12:56 p.m.

Panel Version: 1.129

Created: 21 May 2020, 12:56 p.m.
Last Modified: 21 May 2020, 12:56 p.m.
Panel version: 1.129

chirag patel (Genetic Health Queensland)

Red List (low evidence)

Not a CAKUT gene, more a tubulopathy gene.
Created: 16 Jan 2020, 4:57 a.m. | Last Modified: 16 Jan 2020, 4:57 a.m.

Panel Version: 1.41

Created: 16 Jan 2020, 4:57 a.m.
Last Modified: 16 Jan 2020, 4:57 a.m.
Panel version: 1.41

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Panel version: 0

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: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
Arthrogryposis, renal dysfunction, and cholestasis

OMIM

608552

Clinvar variants

Variants in VPS33B

Penetrance

Complete

Panels with this gene

History Filter Activity

21 May 2020, Gel status: 1

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: vps33b has been classified as Red List (Low Evidence).

29 Mar 2016, Gel status: 4