Cholestasis
Gene: VPS33B
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.
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARC syndrome; arthrogryposis-renal-cholestasis syndrome
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
Gene: vps33b has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to VPS33B. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: VPS33B was added gene: VPS33B was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: VPS33B was set to