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  3. VPS33B
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Arthrogryposis

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

2 reviews

Julie Vogt (West Midlands Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Publications

Created: 12 May 2016, 7:49 p.m.

Panel version: 0.34

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is a confirmed DD gene for ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, and is a green gene on the CAKUT gene panel.
Created: 3 May 2016, 9:57 a.m.
Created: 3 May 2016, 9:55 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
  • arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
OMIM
608552
Clinvar variants
Variants in VPS33B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Arthrogryposispanel. Source: Expert list

19 May 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).

19 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VPS33B were set to Arthrogryposis, Renal Dysfunction, And Cholestasis 1; arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

19 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VPS33B were set to PMID: 15052268; 16896922

19 May 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).

3 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Apr 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene VPS33B were set to Arthrogryposis, Renal Dysfunction, And Cholestasis 1

4 Apr 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

VPS33B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen