Neonatal cholestasis
Gene: VPS33BEnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
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 ~150Created: 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
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- 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
-
- Congenital myopathy
- Arthrogryposis
- Inherited bleeding disorders
- Neonatal cholestasis
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
- Nephrocalcinosis or nephrolithiasis
- Cholestasis
- Palmoplantar keratodermas
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Likely inborn error of metabolism
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: vps33b has been classified as Green List (High Evidence).
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
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to VPS33B. Panel: Cholestasis
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
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
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)VPS33B was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)VPS33B was created by Ellen McDonagh