CAKUT

Gene: VPS33B

Red List (low evidence)

VPS33B (VPS33B, late endosome and lysosome associated)
EnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 21 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

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

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VPS33B were set to Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, renal dysfunction, and cholestasis

14 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene VPS33B was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene VPS33B was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen