Neonatal cholestasis

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 21 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:22 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

majority of pathogenic variants are nonsense and splicing, but there are some missense, too
rare gene in our cohort; 1 patient with genetic diagnosis of VPS33B out of ~150
Created: 4 Jun 2018, 11:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cholestasis

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neonatal and Adult Cholestasis
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, Renal Dysfunction, and Cholestasis 1
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • ARC syndrome
  • arthrogryposis-renal-cholestasis syndrome
OMIM
608552
Clinvar variants
Variants in VPS33B
Penetrance
None
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: vps33b has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: VPS33B were set to Neonatal and Adult Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis 1; Arthrogryposis, Renal Dysfunction, And Cholestasis 1; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; ARC syndrome; arthrogryposis-renal-cholestasis syndrome

21 Jun 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to VPS33B. Panel: Cholestasis

18 May 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Illumina TruGenome Clinical Sequencing Services was added to VPS33B. Panel: Cholestasis Phenotypes for gene VPS33B were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 1, 208085, Arthrogryposis, Renal Dysfunction, and Cholestasis 1, Arthrogryposis, Renal Dysfunction, And Cholestasis 1, Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome

18 May 2018, Gel status: 3

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene VPS33B were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 1, 208085, Arthrogryposis, Renal Dysfunction, and Cholestasis 1, Arthrogryposis, Renal Dysfunction, And Cholestasis 1

18 May 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to VPS33B. Panel: Cholestasis Model of inheritance for gene VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene VPS33B were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 1, 208085, Arthrogryposis, Renal Dysfunction, and Cholestasis 1

18 May 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to VPS33B. Panel: Cholestasis Phenotypes for gene VPS33B were set to Neonatal and Adult Cholestasis, Arthrogryposis, renal dysfunction, and cholestasis 1, 208085

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VPS33B was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

VPS33B was created by Ellen McDonagh