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| Rare anaemia v0.71 | CYB5R3 | Louise Daugherty Mode of inheritance for gene: CYB5R3 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | CYB5R3 | Louise Daugherty commented on gene: CYB5R3: 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: CYB5R3; 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: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | CYB5R3 | Steve Keeney reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Methaemoglobinaemia type I and II, 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | CYB5R3 | Louise Daugherty Added phenotypes Methaemoglobinaemia type I and II, 250800 for gene: CYB5R3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | CYB5R3 | Louise Daugherty Source North West GLH was added to CYB5R3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | CYB5R3 | Louise Daugherty commented on gene: CYB5R3: 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: CYB5R3; 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: 250800 Methaemoglobinaemia type I and II; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | CYB5R3 | Mandy nesbitt reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 250800 Methaemoglobinaemia type I and II; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | CYB5R3 | Louise Daugherty Added phenotypes 250800 Methaemoglobinaemia type I and II for gene: CYB5R3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | CYB5R3 | Louise Daugherty Source Yorkshire and North East GLH was added to CYB5R3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | CYB5R3 | Louise Daugherty commented on gene: CYB5R3: 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: CYB5R3; 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: 250800 Methemoglobinemia; PMID(s): 15921385; 18318771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | CYB5R3 | Frances Smith reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15921385, 18318771; Phenotypes: 250800 Methemoglobinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | CYB5R3 |
Louise Daugherty Added phenotypes 250800 Methemoglobinemia for gene: CYB5R3 Publications for gene CYB5R3 were changed from to 18318771; 15921385 |
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| Rare anaemia v0.7 | CYB5R3 | Louise Daugherty Source London South GLH was added to CYB5R3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | CYB5R3 | Louise Daugherty reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | CYB5R3 | Carl Fratter reviewed gene: CYB5R3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | CYB5R3 | Louise Daugherty Source NHS GMS was added to CYB5R3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | CYB5R3 |
Louise Daugherty Source Expert Review Green was added to CYB5R3. Added phenotypes Methaemoglobinaemia for gene: CYB5R3 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | CYB5R3 |
Louise Daugherty gene: CYB5R3 was added gene: CYB5R3 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CYB5R3 was set to |
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