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Iron metabolism disorders - NOT common HFE mutations v2.5 | CYBRD1 |
Sarah Leigh edited their review of gene: CYBRD1: Added comment: It would appear that there are no CYBRD1 rare SNVs associated with iron metabolism. However, PMID: 37632052 concludes that the coexistence of minor alleles of HDAC3 rs976552 and CYBRD1 rs884409 is linked with higher prevalence of hepatocellular carcinoma. Furthermore, HFE p.C282Y variant together with the CYBRD1 polymorphism rs884409 reduces CYBRD1 promoter activity by 30% (PMID: 19673882).; Changed rating: AMBER |
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Iron metabolism disorders - NOT common HFE mutations v2.3 | STAB1 |
Edoardo Monfrini gene: STAB1 was added gene: STAB1 was added to Iron metabolism disorders - NOT common HFE mutations. Sources: Literature Mode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAB1 were set to 37490907 Phenotypes for gene: STAB1 were set to Hyperferritinemia without iron overload Penetrance for gene: STAB1 were set to Complete Review for gene: STAB1 was set to GREEN Added comment: Sources: Literature |
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Iron metabolism disorders - NOT common HFE mutations v1.41 |
Eleanor Williams Panel name changed from Iron metabolism disorders to Iron metabolism disorders - NOT common HFE mutations List of related panels changed from R96 to Iron metabolism disorders; R96 |
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Iron metabolism disorders - NOT common HFE mutations v1.36 | HFE | Arina Puzriakova Phenotypes for gene: HFE were changed from 235200 HEMOCHROMATOSIS, TYPE 1; HFE1; 235200 Hemochromatosis; 235200HEMOCHROMATOSIS, TYPE 1 to Hemochromatosis, OMIM:235200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.26 | FTH1 | Sarah Leigh Phenotypes for gene: FTH1 were changed from 615517 ?Hemochromatosis, type 5; HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 to ?Hemochromatosis, type 5 OMIM:615517; hemochromatosis type 5 MONDO:0014225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.22 | 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 v1.18 | HFE2 | Sarah Leigh Phenotypes for gene: HFE2 were changed from HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A to Hemochromatosis, type 2A OMIM:602390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v1.17 | HAMP | Sarah Leigh Phenotypes for gene: HAMP were changed from 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B to Hemochromatosis, type 2B OMIM:613313 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 v0.25 | HFE2 | Louise Daugherty commented on gene: HFE2: 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: HJV; 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: 602390.HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.25 | HFE | Louise Daugherty commented on gene: HFE: 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: HFE; Suggested initial 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: 235200.HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.25 | HAMP | Louise Daugherty commented on gene: HAMP: 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: HAMP; 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: 613313.HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.25 | FTH1 | Louise Daugherty commented on gene: FTH1: 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: FTH1; 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 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 | 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 v0.24 | HFE2 | Steve Keeney reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A, HFE2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.24 | HFE | Steve Keeney reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.24 | HAMP | Steve Keeney reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B, HFE2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.24 | FTH1 | Steve Keeney reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | SLC40A1 | Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.23 | HFE2 | Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.23 | HFE | Louise Daugherty Added phenotypes HFE1; 235200HEMOCHROMATOSIS, TYPE 1 for gene: HFE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.23 | HAMP | Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.23 | FTH1 | Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.21 | HFE2 | Louise Daugherty Source North West GLH was added to HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.21 | HFE | Louise Daugherty Source North West GLH was added to HFE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 v0.20 | HFE2 | Louise Daugherty commented on gene: HFE2: 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: HJV; 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: 602390 HEMOCHROMATOSIS, TYPE 2A; HFE2A; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.20 | HFE | Louise Daugherty commented on gene: HFE: 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: HFE; 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: 235200 HEMOCHROMATOSIS, TYPE 1; HFE1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.20 | HAMP | Louise Daugherty commented on gene: HAMP: 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: HAMP; 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: 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.20 | FTH1 | Louise Daugherty commented on gene: FTH1: 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: FTH1; 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: 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 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 | 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 v0.15 | HFE2 | Mandy nesbitt reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602390 HEMOCHROMATOSIS, TYPE 2A, HFE2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.15 | HFE | Mandy nesbitt reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 235200 HEMOCHROMATOSIS, TYPE 1, HFE1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.15 | HAMP | Mandy nesbitt reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613313 HEMOCHROMATOSIS, TYPE 2B, HFE2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.15 | FTH1 | Mandy nesbitt reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615517 HEMOCHROMATOSIS, TYPE 5, HFE5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | SLC40A1 | Louise Daugherty Added phenotypes HFE4; 606069 HEMOCHROMATOSIS, TYPE 4 for gene: SLC40A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | HFE2 | Louise Daugherty Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | HFE | Louise Daugherty Added phenotypes 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 for gene: HFE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | HAMP | Louise Daugherty Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.14 | FTH1 | Louise Daugherty Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.12 | HFE2 | Louise Daugherty Source Yorkshire and North East GLH was added to HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.12 | HFE | Louise Daugherty Source Yorkshire and North East GLH was added to HFE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.11 | HFE2 | Louise Daugherty commented on gene: HFE2: 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: HJV(HFE2); 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: 602390 Hemochromatosis, type 2A; PMID(s): 14982873. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.11 | HFE | Louise Daugherty commented on gene: HFE: 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: HFE; 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: 235200 Hemochromatosis; PMID(s): 18199861 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.10 | HFE2 | Frances Smith reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14982873; Phenotypes: 602390 Hemochromatosis, type 2A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.10 | HFE | Frances Smith reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: 18199861; Phenotypes: 235200 Hemochromatosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.9 | HFE2 |
Louise Daugherty Added phenotypes 602390 Hemochromatosis, type 2A for gene: HFE2 Publications for gene HFE2 were changed from 30166352; 14982873; 19342478; 14647275 to 14982873 |
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Iron metabolism disorders - NOT common HFE mutations v0.9 | HFE |
Louise Daugherty Added phenotypes 235200 Hemochromatosis for gene: HFE Publications for gene HFE were changed from 27518069; 18210110; 24266916 to 18199861 |
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Iron metabolism disorders - NOT common HFE mutations v0.7 | HFE2 | Louise Daugherty Source London South GLH was added to HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.7 | HFE | Louise Daugherty Source London South GLH was added to HFE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.6 | HFE2 | Louise Daugherty commented on gene: HFE2: New HGNC approved gene symbol for HFE2 is HJV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.6 | HFE2 | Louise Daugherty Tag new-gene-name tag was added to gene: HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.6 | HFE2 | Louise Daugherty reviewed gene: HFE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.6 | HFE | Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.5 | HFE2 | Carl Fratter reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.5 | HFE | Carl Fratter reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.4 | HFE2 | Louise Daugherty Source NHS GMS was added to HFE2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Iron metabolism disorders - NOT common HFE mutations v0.4 | HFE | Louise Daugherty Source NHS GMS was added to HFE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 v0.3 | HFE2 |
Louise Daugherty Source Expert Review Green was added to HFE2. Mode of inheritance for gene HFE2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A for gene: HFE2 Publications for gene HFE2 were changed from to 30166352; 14982873; 19342478; 14647275 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 | HFE |
Louise Daugherty Source Expert Review Green was added to HFE. Mode of inheritance for gene HFE was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 for gene: HFE Publications for gene HFE were changed from to 27518069; 18210110; 24266916 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 | HAMP |
Louise Daugherty Source Expert Review Green was added to HAMP. Mode of inheritance for gene HAMP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B for gene: HAMP Publications for gene HAMP were changed from to 22297252; 14630809 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 | FTH1 |
Louise Daugherty Source Expert Review Green was added to FTH1. Mode of inheritance for gene FTH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes HFE5; 615517 HEMOCHROMATOSIS, TYPE 5 for gene: FTH1 Publications for gene FTH1 were changed from to 11389486 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 | HFE2 |
Louise Daugherty gene: HFE2 was added gene: HFE2 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HFE2 was set to |
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Iron metabolism disorders - NOT common HFE mutations v0.2 | HFE |
Louise Daugherty gene: HFE was added gene: HFE was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HFE was set to |