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| Iron metabolism disorders - NOT common HFE mutations v1.24 | TFR2 | Sarah Leigh Phenotypes for gene: TFR2 were changed from 604250 HEMOCHROMATOSIS, TYPE 3; 604250 Hemochromatosis, type 3; HFE3 to Hemochromatosis, type 3 OMIM:604250; hemochromatosis type 3 MONDO:0011417 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v1.23 | TF | Sarah Leigh Phenotypes for gene: TF were changed from 209300 Atransferrinemia, Hypoferritinaemia; 209300 Atransferrinemia to Atransferrinemia OMIM:209300; atransferrinemia MONDO:0008846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.25 | TFR2 | Louise Daugherty commented on gene: TFR2: 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: TFR2; 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: 604250.HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.25 | TF | Louise Daugherty commented on gene: TF: 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: TF; 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: 209300 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.24 | TFR2 | Steve Keeney reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3, HFE3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.24 | TF | Steve Keeney reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.23 | TFR2 | Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.23 | TF | Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.21 | TFR2 | Louise Daugherty Source North West GLH was added to TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.21 | TF | Louise Daugherty Source North West GLH was added to TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.20 | TFR2 | Louise Daugherty commented on gene: TFR2: 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: TFR2; 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: 604250 HEMOCHROMATOSIS, TYPE 3; HFE3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.20 | TF | Louise Daugherty commented on gene: TF: 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: TF; 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: 209300 Atransferrinemia, Hypoferritinaemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.15 | TFR2 | Mandy nesbitt reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604250 HEMOCHROMATOSIS, TYPE 3, HFE3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.15 | TF | Mandy nesbitt reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 209300 Atransferrinemia, Hypoferritinaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.14 | TFR2 | Louise Daugherty Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.14 | TF | Louise Daugherty Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.12 | TFR2 | Louise Daugherty Source Yorkshire and North East GLH was added to TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.12 | TF | Louise Daugherty Source Yorkshire and North East GLH was added to TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.11 | TFR2 | Louise Daugherty commented on gene: TFR2: 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: TFR2; 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: 604250 Hemochromatosis, type 3; PMID(s): 10802645; 11313241 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.11 | TF | Louise Daugherty commented on gene: TF: 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: TF; 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: 209300 Atransferrinemia; PMID(s): 11110675; 15466165 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.10 | TFR2 | Frances Smith reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10802645, 11313241; Phenotypes: 604250 Hemochromatosis, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.10 | TF | Frances Smith reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: 11110675, 15466165; Phenotypes: 209300 Atransferrinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.9 | TFR2 |
Louise Daugherty Added phenotypes 604250 Hemochromatosis, type 3 for gene: TFR2 Publications for gene TFR2 were changed from 24055163; 18094142; 26029709 to 10802645; 11313241 |
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| Iron metabolism disorders - NOT common HFE mutations v0.9 | TF |
Louise Daugherty Added phenotypes 209300 Atransferrinemia for gene: TF Publications for gene TF were changed from 23888904; 25486930; 11110675 to 15466165; 11110675 |
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| Iron metabolism disorders - NOT common HFE mutations v0.7 | TFR2 | Louise Daugherty Source London South GLH was added to TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.7 | TF | Louise Daugherty Source London South GLH was added to TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | TFR2 | Louise Daugherty reviewed gene: TFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.6 | TF | Louise Daugherty reviewed gene: TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | TFR2 | Carl Fratter reviewed gene: TFR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.5 | TF | Carl Fratter reviewed gene: TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | TFR2 | Louise Daugherty Source NHS GMS was added to TFR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.4 | TF | Louise Daugherty Source NHS GMS was added to TF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Iron metabolism disorders - NOT common HFE mutations v0.3 | TFR2 |
Louise Daugherty Source Expert Review Green was added to TFR2. Mode of inheritance for gene TFR2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 for gene: TFR2 Publications for gene TFR2 were changed from to 24055163; 18094142; 26029709 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Iron metabolism disorders - NOT common HFE mutations v0.3 | TF |
Louise Daugherty Source Expert Review Green was added to TF. Mode of inheritance for gene TF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 209300 Atransferrinemia, Hypoferritinaemia for gene: TF Publications for gene TF were changed from to 23888904; 25486930; 11110675 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 | TFR2 |
Louise Daugherty gene: TFR2 was added gene: TFR2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TFR2 was set to |
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| Iron metabolism disorders - NOT common HFE mutations v0.2 | TF |
Louise Daugherty gene: TF was added gene: TF was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TF was set to |
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