Arthrogryposis
Gene: VPS33BComment 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.
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.
VPS33B was added to Arthrogryposispanel. Source: Expert list
This gene has been classified as Green List (High Evidence).
Phenotypes for VPS33B were set to Arthrogryposis, Renal Dysfunction, And Cholestasis 1; arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Publications for VPS33B were set to PMID: 15052268; 16896922
This gene has been classified as Green List (High Evidence).
Mode of inheritance for VPS33B was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for gene VPS33B were set to Arthrogryposis, Renal Dysfunction, And Cholestasis 1
VPS33B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
VPS33B was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen