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Iron metabolism disorders - NOT common HFE mutations v1.22 | SLC40A1 | Sarah Leigh Phenotypes for gene: SLC40A1 were changed from HFE4; 606069 Hemochromatosis, type 4; 606069 HEMOCHROMATOSIS, TYPE 4 to Hemochromatosis, type 4 OMIM:606069; hemochromatosis type 4 MONDO:0011631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.25 | SLC40A1 | Louise Daugherty commented on gene: SLC40A1: 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: SLC40A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606069.HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.24 | SLC40A1 | Steve Keeney reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4, HFE4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.23 | SLC40A1 | Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.21 | SLC40A1 | Louise Daugherty Source North West GLH was added to SLC40A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.20 | SLC40A1 | Louise Daugherty commented on gene: SLC40A1: 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: SLC40A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.15 | SLC40A1 | Mandy nesbitt reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 606069 HEMOCHROMATOSIS, TYPE 4, HFE4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | SLC40A1 | Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.12 | SLC40A1 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC40A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.11 | SLC40A1 | Louise Daugherty commented on gene: SLC40A1: 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: SLC40A1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 606069 Hemochromatosis, type 4; PMID(s): 11431687; 16351644 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.10 | SLC40A1 | Frances Smith reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11431687, 16351644; Phenotypes: 606069 Hemochromatosis, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.9 | SLC40A1 |
Louise Daugherty Added phenotypes 606069 Hemochromatosis, type 4 for gene: SLC40A1 Publications for gene SLC40A1 were changed from 19846751 to 16351644; 11431687 |
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Iron metabolism disorders - NOT common HFE mutations v0.7 | SLC40A1 | Louise Daugherty Source London South GLH was added to SLC40A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.6 | SLC40A1 | Louise Daugherty reviewed gene: SLC40A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.5 | SLC40A1 | Carl Fratter reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.4 | SLC40A1 | Louise Daugherty Source NHS GMS was added to SLC40A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.3 | SLC40A1 |
Louise Daugherty Source Expert Review Green was added to SLC40A1. Mode of inheritance for gene SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1 Publications for gene SLC40A1 were changed from to 19846751 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Iron metabolism disorders - NOT common HFE mutations v0.2 | SLC40A1 |
Louise Daugherty gene: SLC40A1 was added gene: SLC40A1 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC40A1 was set to |