Renal tubulopathies
Gene: VPS33BComment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review.Created: 16 Oct 2020, 8:26 a.m. | Last Modified: 16 Oct 2020, 8:26 a.m.
Panel Version: 2.20
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
Comment on list classification: Changing rating from red to green. Sufficient cases and Renal tubular acidosis and Renal Fanconi syndrome are a feature of this syndromeCreated: 30 Mar 2020, 2:26 p.m. | Last Modified: 30 Mar 2020, 2:26 p.m.
Panel Version: 2.13
Associated with Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 (AR) in OMIM.
Many reported cases listed in OMIM. Renal tubular acidosis and Renal Fanconi syndrome are listed as clinical features. VIPAS39 & VPS33B form a complex.
Sources: LiteratureCreated: 30 Mar 2020, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Publications
Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
Tag for-review was removed from gene: VPS33B.
Source Expert Review Green was added to VPS33B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: VPS33B.
Gene: vps33b has been classified as Amber List (Moderate Evidence).
Gene: vps33b has been classified as Green List (High Evidence).
gene: VPS33B was added gene: VPS33B was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 8151641; 16155421; 16896922 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 Review for gene: VPS33B was set to GREEN