Neonatal cholestasis
Gene: VPS33BComment 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
This panel has been subjected to extensive internal and external review.
Gene: vps33b has been classified as Green List (High Evidence).
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
Victorian Clinical Genetics Services was added to VPS33B. Panel: Cholestasis
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
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
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
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
VPS33B was added to Cholestasis panel. Sources: Emory Genetics Laboratory
VPS33B was created by Ellen McDonagh