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Unexplained kidney failure in young people v1.92 VIPAS39 Arina Puzriakova Tag for-review was removed from gene: VIPAS39.
Unexplained kidney failure in young people v1.89 VIPAS39 Eleanor Williams Tag for-review tag was added to gene: VIPAS39.
Unexplained kidney failure in young people v1.84 VIPAS39 Rebecca Foulger Classified gene: VIPAS39 as Green List (high evidence)
Unexplained kidney failure in young people v1.84 VIPAS39 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review by Zornitza Stark, and curation of PMID:20190753. Sufficient (>3) cases of ARC being caused by VIPAS39 variants in PMID:20190753. Although only one paper, the patients are from multiple ethnicities and functional studies support the phenotype: VIPAS39 & VPS33B form a complex, and have roles in apical junction formation. Variants in VPS33B cause 'Arthrogryposis, renal dysfunction, and cholestasis 1, MIM:208085', and VPS33B is Green on this panel. VIPAS39-ARC also has a Confirmed Disease confidence in Gene2Phenotype.
Unexplained kidney failure in young people v1.84 VIPAS39 Rebecca Foulger Gene: vipas39 has been classified as Green List (High Evidence).
Unexplained kidney failure in young people v1.83 VIPAS39 Rebecca Foulger commented on gene: VIPAS39
Unexplained kidney failure in young people v1.83 VIPAS39 Rebecca Foulger Publications for gene: VIPAS39 were set to
Unexplained kidney failure in young people v1.82 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes