Cholestasis
Gene: VPS33BEnsemblGeneIds (GRCh38): ENSG00000184056
EnsemblGeneIds (GRCh37): ENSG00000184056
OMIM: 608552, Gene2Phenotype
VPS33B is in 18 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jan 2019, 10:43 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: VPS33B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
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
- Other
- NHS GMS
- Phenotypes
-
- arthrogryposis-renal-cholestasis syndrome
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
- Arthrogryposis, Renal Dysfunction, and Cholestasis 1
- Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
- ARC syndrome
- Neonatal and Adult Cholestasis
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
- 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
- Intellectual disability
- 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
- Likely inborn error of metabolism
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: vps33b has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source Other was added to VPS33B. Mode of inheritance for gene VPS33B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes arthrogryposis-renal-cholestasis syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, Renal Dysfunction, and Cholestasis 1; Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; ARC syndrome; Neonatal and Adult Cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis 1 for gene: VPS33B
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to VPS33B. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: VPS33B was added gene: VPS33B was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: VPS33B was set to