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Proteinuric renal disease v4.27 VIPAS39 Arina Puzriakova changed review comment from: VIPAS39 biallelic variants cause Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404). At least 10 individuals have been reported in the literature. Proteinuria has been reported in at least 8 individuals (PMID:39736737;35151346;37202112;26019847;24071963) which supports inclusion of this gene on the panel.; to: VIPAS39 biallelic variants cause Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404). At least 11 individuals have been reported in the literature. Proteinuria has been reported in at least 9 individuals (PMID:39736737;35151346;37202112;26019847;24071963;31479177) which supports inclusion of this gene on the panel.
Proteinuric renal disease v4.27 VIPAS39 Arina Puzriakova Publications for gene: VIPAS39 were set to 39736737; 35151346; 37202112; 26019847; 24071963
Proteinuric renal disease v4.26 VIPAS39 Arina Puzriakova Publications for gene: VIPAS39 were set to 20190753
Proteinuric renal disease v4.25 VIPAS39 Arina Puzriakova Classified gene: VIPAS39 as Amber List (moderate evidence)
Proteinuric renal disease v4.25 VIPAS39 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Proteinuric renal disease v4.25 VIPAS39 Arina Puzriakova Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v4.24 VIPAS39 Arina Puzriakova Tag Q1_25_ promote_green tag was added to gene: VIPAS39.
Proteinuric renal disease v4.24 VIPAS39 Arina Puzriakova reviewed gene: VIPAS39: Rating: ; Mode of pathogenicity: None; Publications: 39736737, 35151346, 37202112, 26019847, 24071963; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 (OMIM:613404); Mode of inheritance: None
Proteinuric renal disease v4.24 VIPAS39 Arina Puzriakova Mode of inheritance for gene: VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v4.23 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Proteinuric renal disease v1.176 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404
Proteinuric renal disease v1.175 VIPAS39 Eleanor Williams Publications for gene: VIPAS39 were set to
Proteinuric renal disease v1.16 VIPAS39 Eleanor Williams reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: PMID: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.15 VIPAS39 Eleanor Williams gene: VIPAS39 was added
gene: VIPAS39 was added to Proteinuric renal disease. Sources: NHS GMS
Mode of inheritance for gene: VIPAS39 was set to