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Rare anaemia v0.28 | G6PD | Louise Daugherty commented on gene: G6PD: 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: G6PD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.27 | G6PD | Steve Keeney reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hemolytic anemia due to G6PD deficiency, 300908, Enzyme Disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.26 | G6PD | Louise Daugherty Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.22 | G6PD | Louise Daugherty Source North West GLH was added to G6PD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.17 | G6PD | Louise Daugherty commented on gene: G6PD: 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: G6PD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.16 | G6PD | Mandy nesbitt reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300908 Hemolytic anemia due to G6PD deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.15 | G6PD | Louise Daugherty Added phenotypes 300908 Hemolytic anemia due to G6PD deficiency for gene: G6PD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.13 | G6PD | Louise Daugherty Source Yorkshire and North East GLH was added to G6PD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.11 | G6PD | Louise Daugherty commented on gene: G6PD: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: G6PD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300908 Hemolytic anemia, G6PD deficient (favism); PMID(s): 18177777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.10 | G6PD | Frances Smith reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: 18177777; Phenotypes: 300908 Hemolytic anemia, G6PD deficient (favism); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.9 | G6PD |
Louise Daugherty Added phenotypes 300908 Hemolytic anemia, G6PD deficient (favism) for gene: G6PD Publications for gene G6PD were changed from 1999409 to 18177777 |
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Rare anaemia v0.7 | G6PD | Louise Daugherty Source London South GLH was added to G6PD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.6 | G6PD | Louise Daugherty reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.5 | G6PD | Carl Fratter reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.4 | G6PD | Louise Daugherty Source NHS GMS was added to G6PD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare anaemia v0.3 | G6PD |
Louise Daugherty Source Expert Review Green was added to G6PD. Mode of inheritance for gene G6PD was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Hemolytic anemia due to G6PD deficiency, 300908; Enzyme Disorder for gene: G6PD Publications for gene G6PD were changed from to 1999409 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Rare anaemia v0.2 | G6PD |
Louise Daugherty gene: G6PD was added gene: G6PD was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: G6PD was set to |