| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Renal tubulopathies v2.39 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.38 | VPS33B | Eleanor Williams Tag for-review was removed from gene: VPS33B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.32 | VPS33B | Eleanor Williams commented on gene: VPS33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.31 | VPS33B |
Eleanor Williams Source Expert Review Green was added to VPS33B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.24 | VPS33B | Arina Puzriakova Tag for-review tag was added to gene: VPS33B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.20 | VPS33B | Catherine Snow Classified gene: VPS33B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.20 | VPS33B | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.20 | VPS33B | Catherine Snow Gene: vps33b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | VPS33B | Eleanor Williams Classified gene: VPS33B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | VPS33B | Eleanor Williams Added comment: 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 syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | VPS33B | Eleanor Williams Gene: vps33b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.12 | VPS33B |
Eleanor Williams 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 Added comment: 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: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||