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| Iron metabolism disorders - NOT common HFE mutations v1.20 | SLC11A2 | Sarah Leigh Phenotypes for gene: SLC11A2 were changed from Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100 to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100; microcytic anemia with liver iron overload MONDO:0008787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.19 | SLC11A2 | Sarah Leigh Phenotypes for gene: SLC11A2 were changed from 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia; 206100 Anemia, hypochromic microcytic, with iron overload 1; AHMIO1 DMT1-related anemia to Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.25 | SLC11A2 | Louise Daugherty commented on gene: SLC11A2: 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: SLC11A2; 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: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia (OMIM entry 600523); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.24 | SLC11A2 | Steve Keeney reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, AHMIO1 DMT1-related anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.23 | SLC11A2 | Louise Daugherty Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia for gene: SLC11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.21 | SLC11A2 | Louise Daugherty Source North West GLH was added to SLC11A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.20 | SLC11A2 | Louise Daugherty commented on gene: SLC11A2: 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: SLC11A2; 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: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.15 | SLC11A2 | Mandy nesbitt reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, AHMIO1 DMT1-related anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.14 | SLC11A2 | Louise Daugherty Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 DMT1-related anemia for gene: SLC11A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.12 | SLC11A2 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC11A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.11 | SLC11A2 | Louise Daugherty commented on gene: SLC11A2: 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: SLC11A2; 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: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): 15459009; 16160008; 16439678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.10 | SLC11A2 | Frances Smith reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15459009, 16160008, 16439678; Phenotypes: 206100 Anemia, hypochromic microcytic, with iron overload 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.9 | SLC11A2 |
Louise Daugherty Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2 Publications for gene SLC11A2 were changed from 29178181; 21871825 to 16160008; 16439678; 15459009 |
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| Iron metabolism disorders - NOT common HFE mutations v0.7 | SLC11A2 | Louise Daugherty Source London South GLH was added to SLC11A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | SLC11A2 | Louise Daugherty reviewed gene: SLC11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | SLC11A2 | Carl Fratter reviewed gene: SLC11A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | SLC11A2 | Louise Daugherty Source NHS GMS was added to SLC11A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | SLC11A2 |
Louise Daugherty Source Expert Review Green was added to SLC11A2. Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1; DMT1-related anemia for gene: SLC11A2 Publications for gene SLC11A2 were changed from to 29178181; 21871825 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 | SLC11A2 |
Louise Daugherty gene: SLC11A2 was added gene: SLC11A2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC11A2 was set to |
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