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| Renal tubulopathies v2.38 | VIPAS39 | Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.37 | VIPAS39 | Eleanor Williams Tag for-review was removed from gene: VIPAS39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.32 | VIPAS39 | Eleanor Williams commented on gene: VIPAS39: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.31 | VIPAS39 |
Eleanor Williams Source Expert Review Green was added to VIPAS39. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Renal tubulopathies v2.20 | VIPAS39 | Catherine Snow Tag for-review tag was added to gene: VIPAS39. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.19 | VIPAS39 | Catherine Snow Classified gene: VIPAS39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.19 | VIPAS39 | 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 v2.19 | VIPAS39 | Catherine Snow Gene: vipas39 has been classified as Amber List (Moderate 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 |
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| Renal tubulopathies v2.11 | VIPAS39 | Eleanor Williams Classified gene: VIPAS39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.11 | VIPAS39 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases (>3) reported in PMID:20190753 with patients with different ethnicities, several variants are reported and functional studies support the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.11 | VIPAS39 | Eleanor Williams Gene: vipas39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.10 | VIPAS39 |
Eleanor Williams gene: VIPAS39 was added gene: VIPAS39 was added to Renal tubulopathies. Sources: Expert Review Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VIPAS39 were set to 20190753 Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2 #613404 Review for gene: VIPAS39 was set to GREEN Added comment: Reviewed by Zornitza Stark on the Unexplained kidney failure in young people panel (panel 156) where she notes that it is a syndromic disorder with a prominent renal phenotype renal tubular acidosis and Fanconi syndrome. Australian Genomics have this gene green on their renal tubulopathies panel. Sources: Expert Review |
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