Nephrocalcinosis or nephrolithiasisGene: VPS33B
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:32 p.m. | Last Modified: 20 Oct 2020, 3:32 p.m.
Panel Version: 2.15
Added to panel as Green gene as advised by Helen Brittain, Genomics England Clinical Team. This rating should be reviewed by GLHs at the date of next GMS panel update. ARC phenotype (MIM:208085) is appropriate for the panel, and sufficient cases to support causation (see also the other ARC gene, VIPAS39).
Created: 21 Apr 2020, 4:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
Gene: vps33b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: VPS33B.
Gene: vps33b has been classified as Green List (High Evidence).
gene: VPS33B was added gene: VPS33B was added to Nephrocalcinosis or nephrolithiasis. Sources: Literature Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS33B were set to 15052268; 22753090 Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085