Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Nephrocalcinosis or nephrolithiasis v2.29 | VPS33B | Eleanor Williams Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 to Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.28 | VPS33B | Eleanor Williams Tag for-review was removed from gene: VPS33B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.27 | VPS33B | Eleanor Williams commented on gene: VPS33B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.26 | VPS33B |
Eleanor Williams Source Expert Review Green was added to VPS33B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.15 | VPS33B | Arina Puzriakova Classified gene: VPS33B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.15 | VPS33B | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.15 | VPS33B | Arina Puzriakova Gene: vps33b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.14 | VPS33B | Arina Puzriakova Tag for-review tag was added to gene: VPS33B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.13 | VPS33B | Rebecca Foulger Classified gene: VPS33B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.13 | VPS33B | Rebecca Foulger Gene: vps33b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrocalcinosis or nephrolithiasis v2.12 | VPS33B |
Rebecca Foulger 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 Added comment: 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). Sources: Literature |