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Bleeding and platelet disorders v3.14 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Bleeding and platelet disorders v0.28 VIPAS39 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.27 VIPAS39 Steve Keeney reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.26 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.24 VIPAS39 Louise Daugherty Source North West GLH was added to VIPAS39.
Bleeding and platelet disorders v0.23 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.22 VIPAS39 Mandy nesbitt reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.21 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.19 VIPAS39 Louise Daugherty Source Yorkshire and North East GLH was added to VIPAS39.
Bleeding and platelet disorders v0.14 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.10 VIPAS39 Louise Daugherty commented on gene: VIPAS39: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: VIPAS39; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; PMID(s): none submitted
Bleeding and platelet disorders v0.9 VIPAS39 Michael Mitchell reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613404 Arthrogryposis, renal dysfunction, and cholestasis 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.8 VIPAS39 Louise Daugherty Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Bleeding and platelet disorders v0.7 VIPAS39 Louise Daugherty Source London South GLH was added to VIPAS39.
Bleeding and platelet disorders v0.6 VIPAS39 Louise Daugherty reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 VIPAS39 Carl Fratter reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 VIPAS39 Louise Daugherty Source NHS GMS was added to VIPAS39.
Bleeding and platelet disorders v0.3 VIPAS39 Louise Daugherty Source Expert Review Green was added to VIPAS39.
Mode of inheritance for gene VIPAS39 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 613404 Arthrogryposis, renal dysfunction, and cholestasis 2 for gene: VIPAS39
Publications for gene VIPAS39 were changed from to 22753090; 28039895; 20190753
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 VIPAS39 Louise Daugherty gene: VIPAS39 was added
gene: VIPAS39 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: VIPAS39 was set to