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| Cholestasis v0.24 | VIPAS39 | Zornitza Stark Marked gene: VIPAS39 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.24 | VIPAS39 | Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.24 | VIPAS39 | Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.23 | VIPAS39 | Zornitza Stark Publications for gene: VIPAS39 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.22 | VIPAS39 | Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | VIPAS39 | Chern Lim changed review comment from: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC.; to: PMID:20190753: 7 unrelated ARC patients hom/chet with protein-truncating variants or start-loss variant. Knockdown of gene in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | VIPAS39 | Chern Lim 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VIPAS39 was set to Unknown |
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