Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCB7 gene ABCB7 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Iron metabolism disorders - NOT common HFE mutations Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 301310 Anemia, sideroblastic, with ataxia 30401706;10196363;29787825 False 3 67;33;0 3.4 False ENSG00000131269 ENSG00000131269 HGNC:48 ALAS2 gene ALAS2 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Iron metabolism disorders - NOT common HFE mutations Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1, OMIM:300751 30401706;24003969;30098397;10029606 False 3 75;25;0 3.4 False ENSG00000158578 ENSG00000158578 HGNC:397 ATP7B gene ATP7B Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal 277900 WILSON DISEASE 24002824;18210110;27982432;24266916;28433102 False 3 80;20;0 3.4 False ENSG00000123191 ENSG00000123191 HGNC:870 BMP6 gene BMP6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Iron overload, susceptibility to}, OMIM:620121 26582087;32464486 False 3 83;17;0 3.4 False ENSG00000153162 ENSG00000153162 HGNC:1073 CP gene CP Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal aceruloplasminemia MONDO:0011426;Hemosiderosis, systemic, due to aceruloplasminemia OMIM:604290 15338274 False 3 80;20;0 3.4 False ENSG00000047457 ENSG00000047457 HGNC:2295 FTL gene FTL Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperferritinemia-cataract syndrome OIMM:600886;L-ferritin deficiency, dominant and recessive OMIM:615604;Neurodegeneration with brain iron accumulation 3 OMIM:606159 18413574;23940258;23421845;19176363 False 3 80;20;0 3.4 False ENSG00000087086 ENSG00000087086 HGNC:3999 GBA gene GBA Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type II OMIM:230900;Gaucher disease, type IIIC OMIM:231005;Gaucher disease, type III OMIM:231000;Gaucher disease, type I OMIM:230800 27265538;27816428;20575041 False 3 80;20;0 3.4 False ENSG00000177628 ENSG00000177628 HGNC:4177 GLRX5 gene GLRX5 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860 30401706;24003969;30098397;25342667 False 3 75;25;0 3.4 False ENSG00000182512 ENSG00000182512 HGNC:20134 HAMP gene HAMP Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B OMIM:613313 12469120;15198949;12915468 False 3 80;20;0 3.4 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200 18199861 False 3 80;20;0 3.4 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A OMIM:602390 14982873 False 3 80;20;0 3.4 False ENSG00000168509 ENSG00000168509 HGNC:4887 SLC11A2 gene SLC11A2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Anemia, hypochromic microcytic, with iron overload 1 OMIM:206100;microcytic anemia with liver iron overload MONDO:0008787 16160008;16439678;15459009 False 3 80;20;0 3.4 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC25A38 gene SLC25A38 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950;sideroblastic anemia 2 MONDO:0008785 19412178;24323989;21393332 False 3 75;25;0 3.4 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC40A1 gene SLC40A1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemochromatosis, type 4 OMIM:606069;hemochromatosis type 4 MONDO:0011631 16351644;11431687 False 3 80;20;0 3.4 False ENSG00000138449 ENSG00000138449 HGNC:10909 STAB1 gene STAB1 Expert Review Green;Literature;NHS GMS Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Hyperferritinemia without iron overload 37490907 False 3 100;0;0 3.4 False ENSG00000010327 ENSG00000010327 HGNC:18628 TF gene TF Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Atransferrinemia OMIM:209300;atransferrinemia MONDO:0008846 15466165;11110675 False 3 80;20;0 3.4 False ENSG00000091513 ENSG00000091513 HGNC:11740 TFR2 gene TFR2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 OMIM:604250;hemochromatosis type 3 MONDO:0011417 10802645;11313241 False 3 80;20;0 3.4 False ENSG00000106327 ENSG00000106327 HGNC:11762 TMPRSS6 gene TMPRSS6 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal 206200 Iron-refractory iron deficiency anemia;IRIDA;206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA 19357398;18408718 False 3 80;20;0 3.4 False ENSG00000187045 ENSG00000187045 HGNC:16517 FECH gene FECH Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1 OMIM:177000;protoporphyria, erythropoietic, 1 MONDO:0008319 26387792;20857522;28614581 False 2 43;43;14 3.4 False ENSG00000066926 ENSG00000066926 HGNC:3647 FTH1 gene FTH1 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 9, OMIM:620669;?Hemochromatosis, type 5 OMIM:615517;hemochromatosis type 5 MONDO:0014225 11389486;37660254;37265023 False 2 38;38;25 3.4 False ENSG00000167996 ENSG00000167996 HGNC:3976 STEAP3 gene STEAP3 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Iron metabolism disorders - NOT common HFE mutations Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Anemia, hypochromic microcytic, with iron overload 2 OMIM:615234;severe congenital hypochromic anemia with ringed sideroblasts MONDO:0014094 22031863 False 2 33;67;0 3.4 False ENSG00000115107 ENSG00000115107 HGNC:24592 ACVR1 gene ACVR1 Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Fibrodysplasia ossificans progressiva OMIM:135100 28476747 False 1 20;60;20 3.4 False ENSG00000115170 ENSG00000115170 HGNC:171 CDAN1 gene CDAN1 Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 False 1 25;25;50 3.4 False ENSG00000140326 ENSG00000140326 HGNC:1713 CYBRD1 gene CYBRD1 Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal hereditary hemochromatosis MONDO:0006507 15338274;27884173;19673882;37632052 False 1 56;11;33 3.4 False ENSG00000071967 ENSG00000071967 HGNC:20797 HEPH gene HEPH Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 30182051;30060949 False 1 50;33;17 3.4 False ENSG00000089472 ENSG00000089472 HGNC:4866 SEC23B gene SEC23B Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II OMIM:224100;congenital dyserythropoietic anemia type 2 MONDO:0009134 False 1 25;25;50 3.4 False ENSG00000101310 ENSG00000101310 HGNC:10702 SERPINA1 gene SERPINA1 Expert list;Expert Review Red;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Iron metabolism disorders - NOT common HFE mutations Haematology BIALLELIC, autosomal or pseudoautosomal Emphysema due to AAT deficiency OMIM:613490;alpha 1-antitrypsin deficiency MONDO:0013282 18210110;27296815 False 1 60;20;20 3.4 False ENSG00000197249 ENSG00000197249 HGNC:8941