CAKUT
Gene: VPS33BComment on list classification: Downgraded following identification by expert review as VPS33B is a tubulopathy gene.Created: 21 May 2020, 12:56 p.m. | Last Modified: 21 May 2020, 12:56 p.m.
Panel Version: 1.129
Not a CAKUT gene, more a tubulopathy gene.Created: 16 Jan 2020, 4:57 a.m. | Last Modified: 16 Jan 2020, 4:57 a.m.
Panel Version: 1.41
Mainly tubulopathy rather than CAKUTCreated: 17 Oct 2015, 7:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis
Gene: vps33b has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for VPS33B were set to Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, renal dysfunction, and cholestasis
Model of inheritance for gene VPS33B was changed to BIALLELIC, autosomal or pseudoautosomal
VPS33B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene VPS33B was changed to BIALLELIC, autosomal or pseudoautosomal
VPS33B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
VPS33B was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen