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Rare anaemia v1.26 GSR Arina Puzriakova Phenotypes for gene: GSR were changed from NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder to Hemolytic anemia due to glutathione reductase deficiency, OMIM:618660
Rare anaemia v1.25 GSR Arina Puzriakova Publications for gene: GSR were set to 8533822
Rare anaemia v1.24 GSR Arina Puzriakova commented on gene: GSR
Rare anaemia v1.24 GSR Zornitza Stark reviewed gene: GSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 17185460, 31122244; Phenotypes: Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.72 GSR Louise Daugherty Mode of inheritance for gene: GSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.65 GSR Louise Daugherty Classified gene: GSR as Green List (high evidence)
Rare anaemia v0.65 GSR Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.65 GSR Louise Daugherty Gene: gsr has been classified as Green List (High Evidence).
Rare anaemia v0.28 GSR Louise Daugherty commented on gene: GSR: 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: GSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
Rare anaemia v0.27 GSR Steve Keeney reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: NA Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
Rare anaemia v0.26 GSR Louise Daugherty Added phenotypes NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency for gene: GSR
Rare anaemia v0.22 GSR Louise Daugherty Source North West GLH was added to GSR.
Rare anaemia v0.17 GSR Louise Daugherty commented on gene: GSR: 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: GSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: N/A Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
Rare anaemia v0.16 GSR Mandy nesbitt reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Enzyme Disorder, Hemolytic anemia due to glutathione reductase deficiency; Mode of inheritance: Unknown
Rare anaemia v0.15 GSR Louise Daugherty Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR
Rare anaemia v0.13 GSR Louise Daugherty Source Yorkshire and North East GLH was added to GSR.
Rare anaemia v0.6 GSR Louise Daugherty reviewed gene: GSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare anaemia v0.5 GSR Carl Fratter reviewed gene: GSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rare anaemia v0.4 GSR Louise Daugherty Source NHS GMS was added to GSR.
Rare anaemia v0.3 GSR Louise Daugherty Source Expert Review Green was added to GSR.
Mode of inheritance for gene GSR was changed from to Unknown
Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR
Publications for gene GSR were changed from to 8533822
Rating Changed from Red List (low evidence) to Green List (high evidence)
Rare anaemia v0.2 GSR Louise Daugherty gene: GSR was added
gene: GSR was added to Rare anaemia. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: GSR was set to