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| Metal Metabolism Disorders v0.6 | FTH1 | Zornitza Stark Phenotypes for gene: FTH1 were changed from 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 to Hemochromatosis, type 5, MIM# 615517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.0 | FTH1 |
Zornitza Stark gene: FTH1 was added gene: FTH1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Amber,NHS Genomic Medicine Service Mode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTH1 were set to 11389486 Phenotypes for gene: FTH1 were set to 615517 HEMOCHROMATOSIS, TYPE 5; HFE5; 615517 ?Hemochromatosis, type 5 |
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| Metal Metabolism Disorders v0.0 | TFR2 |
Zornitza Stark gene: TFR2 was added gene: TFR2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFR2 were set to 11313241; 10802645 Phenotypes for gene: TFR2 were set to 604250 Hemochromatosis, type 3; HFE3; 604250 HEMOCHROMATOSIS, TYPE 3 |
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| Metal Metabolism Disorders v0.0 | SLC40A1 |
Zornitza Stark gene: SLC40A1 was added gene: SLC40A1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC40A1 were set to 16351644; 11431687 Phenotypes for gene: SLC40A1 were set to 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606069 Hemochromatosis, type 4 |
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| Metal Metabolism Disorders v0.0 | HFE2 |
Zornitza Stark gene: HFE2 was added gene: HFE2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE2 were set to 14982873 Phenotypes for gene: HFE2 were set to HFE2A; 602390 HEMOCHROMATOSIS, TYPE 2A; 602390 Hemochromatosis, type 2A |
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| Metal Metabolism Disorders v0.0 | HFE |
Zornitza Stark gene: HFE was added gene: HFE was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HFE were set to 18199861 Phenotypes for gene: HFE were set to 235200 Hemochromatosis; 235200 HEMOCHROMATOSIS, TYPE 1; 235200HEMOCHROMATOSIS, TYPE 1; HFE1 |
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| Metal Metabolism Disorders v0.0 | HAMP |
Zornitza Stark gene: HAMP was added gene: HAMP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAMP were set to 12915468; 15198949; 12469120 Phenotypes for gene: HAMP were set to 613313 Hemochromatosis, type 2B; 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B |
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