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;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 301310 Anemia, sideroblastic, with ataxia Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 10196363;30401706;29787825 False 3 0;0;0 0.45 False ENSG00000131269 ENSG00000131269 HGNC:48 ALAS2 gene ALAS2 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 300752 Protoporphyria, erythropoietic, X-linked;Sideroblastic anaemia - increased serum ferritin;300751 Anemia, sideroblastic, 1 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 24003969;30401706;10029606;30098397 False 3 0;0;0 0.45 False ENSG00000158578 ENSG00000158578 HGNC:397 AP1S1 gene AP1S1 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome MONDO:0012251;Disorders of copper metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 31399000 False 3 0;0;0 0.45 False ENSG00000106367 ENSG00000106367 HGNC:559 ATP7A gene ATP7A Expert Review Green Metal Metabolism Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of copper metabolism;Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 20170900, 33137485, 31969342, 31558336 False 3 0;0;0 0.45 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 277900 WILSON DISEASE Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 24002824;18210110;27982432;28433102;24266916 False 3 0;0;0 0.45 False ENSG00000123191 ENSG00000123191 HGNC:870 BMP6 gene BMP6 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Iron overload, susceptibility to} 620121 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 26582087 False 3 100;0;0 0.45 True ENSG00000153162 ENSG00000153162 HGNC:1073 CLDN10 gene CLDN10 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;HELIX syndrome MONDO:0060564 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 28686597 False 3 0;0;0 0.45 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;renal hypomagnesemia 3 MONDO:0009550 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 26426912, 16501001, 10878661 False 3 0;0;0 0.45 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;renal hypomagnesemia 5 with ocular involvement MONDO:0009548 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 17033971, 22422540, 27530400 False 3 0;0;0 0.45 False ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM2 gene CNNM2 Expert Review Green Metal Metabolism Disorders Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal renal hypomagnesemia 6 MONDO:0013480;Disorders of magnesium metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 34604137, 35170241 False 3 0;0;0 0.45 False ENSG00000148842 ENSG00000148842 HGNC:103 CP gene CP Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 604290 ACERULOPLASMINEMIA;604290 Hemosiderosis, systemic, due to aceruloplasminemia Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 15338274 False 3 0;0;0 0.45 False ENSG00000047457 ENSG00000047457 HGNC:2295 FTL gene FTL Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3;LFTD;NBIA3;615604 L-FERRITIN DEFICIENCY;HRFTC;606159 Neurodegeneration with brain iron accumulation 3;600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT;600886 Hyperferritinemia-cataract syndrome;615604 L-ferritin deficiency, dominant and recessive Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 23940258;18413574;23421845;19176363 False 3 100;0;0 0.45 True ENSG00000087086 ENSG00000087086 HGNC:3999 GBA gene GBA Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 230800 Gaucher disease, type I;230900 Gaucher disease, type II;231005 Gaucher disease, type IIIC;231000 Gaucher disease, type III Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 27265538;27816428;20575041 False 3 0;0;0 0.45 False ENSG00000177628 ENSG00000177628 HGNC:4177 GLRX5 gene GLRX5 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 616860 Anemia, sideroblastic, 3, pyridoxine-refractory;Sideroblastic anaemia - increased serum ferritin Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 24003969;30401706;25342667;30098397 False 3 0;0;0 0.45 False ENSG00000182512 ENSG00000182512 HGNC:20134 GPHN gene GPHN Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of molybdenum cofactor metabolism;sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 27604308, 11095995, 22040219, 9812897 False 3 0;0;0 0.45 False ENSG00000171723 ENSG00000171723 HGNC:15465 HAMP gene HAMP Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 613313 Hemochromatosis, type 2B;613313 HEMOCHROMATOSIS, TYPE 2B;HFE2B Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 12915468;15198949;12469120 False 3 0;0;0 0.45 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 235200 Hemochromatosis;235200 HEMOCHROMATOSIS, TYPE 1;235200HEMOCHROMATOSIS, TYPE 1;HFE1 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 18199861 False 3 0;0;0 0.45 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HFE2A;602390 HEMOCHROMATOSIS, TYPE 2A;602390 Hemochromatosis, type 2A Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 14982873 False 3 0;0;0 0.45 False ENSG00000168509 ENSG00000168509 HGNC:4887 KCNJ10 gene KCNJ10 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780;Disorders of magnesium metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 19289823, 21849804, 11466414 False 3 0;0;0 0.45 False ENSG00000177807 ENSG00000177807 HGNC:6256 MOCOS gene MOCOS Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of molybdenum cofactor metabolism;xanthinuria type II MONDO:0011346 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 25370766, 17368066, 34356852 False 3 0;0;0 0.45 False ENSG00000075643 ENSG00000075643 HGNC:18234 MOCS1 gene MOCS1 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of molybdenum cofactor metabolism;sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 27604308, 9731530 False 3 0;0;0 0.45 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644;Disorders of molybdenum cofactor metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 27604308, 10053004 False 3 0;0;0 0.45 False ENSG00000164172 ENSG00000164172 HGNC:7193 PIGA gene PIGA Expert Review Green;Literature Metal Metabolism Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 34875027 False 3 100;0;0 0.45 True ENSG00000165195 ENSG00000165195 HGNC:8957 SECISBP2 gene SECISBP2 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal thyroid hormone metabolism, abnormal 1 MONDO:0800046;Other disorders of trace element metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 16228000, 19602558, 21084748, 22247018 False 3 0;0;0 0.45 False ENSG00000187742 ENSG00000187742 HGNC:30972 SEPSECS gene SEPSECS Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 2D MONDO:0013438;Other disorders of trace element metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 20920667, 25044680, 31748115, 29464431 False 3 0;0;0 0.45 False ENSG00000109618 ENSG00000109618 HGNC:30605 SLC11A2 gene SLC11A2 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal AHMIO1;206100 Anemia, hypochromic microcytic, with iron overload 1;AHMIO1 DMT1-related anemia;206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1;DMT1-related anemia Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 16439678;15459009;16160008 False 3 100;0;0 0.45 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC12A3 gene SLC12A3 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;Gitelman syndrome MONDO:0009904 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 34604137, 35170241 False 3 0;0;0 0.45 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC25A38 gene SLC25A38 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 205950 Anemia, sideroblastic, 2, pyridoxine-refractory;Sideroblastic anaemia - increased serum ferritin Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 21393332;19412178;24323989 False 3 0;0;0 0.45 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC30A10 gene SLC30A10 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypermanganesemia syndrome MONDO:0013208;Disorders of magnesium metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 22341972, 22341971, 29193034 False 3 0;0;0 0.45 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC30A2 gene SLC30A2 Expert Review Green Metal Metabolism Disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zinc deficiency, transient neonatal , MIM#608118;Disorders of zinc metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 17065149, 22733820, 32278324, 30450693, 28665435 False 3 0;0;0 0.45 False ENSG00000158014 ENSG00000158014 HGNC:11013 SLC30A9 gene SLC30A9 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Birk-Landau-Perez syndrome (MIM#617595);Disorders of zinc metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 37041080 False 3 0;0;0 0.45 False ENSG00000014824 ENSG00000014824 HGNC:1329 SLC33A1 gene SLC33A1 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of copper metabolism;Huppke-Brendel syndrome MONDO:0013772 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 31194315 False 3 0;0;0 0.45 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC39A13 gene SLC39A13 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873;Disorders of zinc metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 18985159, 18513683 False 3 0;0;0 0.45 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLC39A14 gene SLC39A14 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypermanganesemia with dystonia 2 MONDO:0014864;Disorders of magnesium metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 27231142, 29685658 False 3 0;0;0 0.45 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal acrodermatitis enteropathica MONDO:0008713;Disorders of zinc metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 19370757 False 3 0;0;0 0.45 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal SLC39A8-CDG MONDO:0014746;Other disorders of trace element metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 26637978, 26637979 False 3 0;0;0 0.45 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC40A1 gene SLC40A1 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 606069 HEMOCHROMATOSIS, TYPE 4;HFE4;606069 Hemochromatosis, type 4 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 16351644;11431687 False 3 0;0;0 0.45 False ENSG00000138449 ENSG00000138449 HGNC:10909 STAB1 gene STAB1 Expert Review Green;Literature Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperferritinemia, MIM# 620729 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 37490907;28052375 False 3 100;0;0 0.45 True ENSG00000010327 ENSG00000010327 HGNC:18628 TF gene TF Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 209300 Atransferrinemia;209300 Atransferrinemia, Hypoferritinaemia Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 15466165;11110675 False 3 100;0;0 0.45 False ENSG00000091513 ENSG00000091513 HGNC:11740 TFR2 gene TFR2 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 604250 Hemochromatosis, type 3;HFE3;604250 HEMOCHROMATOSIS, TYPE 3 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 11313241;10802645 False 3 0;0;0 0.45 False ENSG00000106327 ENSG00000106327 HGNC:11762 TMPRSS6 gene TMPRSS6 Expert Review Green;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal IRIDA;206200 Iron-refractory iron deficiency anemia;206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 19357398;18408718 False 3 100;0;0 0.45 False ENSG00000187045 ENSG00000187045 HGNC:16517 TRPM6 gene TRPM6 Expert Review Green Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 23942199 False 3 0;0;0 0.45 False ENSG00000119121 ENSG00000119121 HGNC:17995 FECH gene FECH Expert Review Amber;Genomics England PanelApp;NHS Genomic Medicine Service Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal EPP1;177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 20857522;26387792;28614581 False 2 0;0;0 0.45 False ENSG00000066926 ENSG00000066926 HGNC:3647 FXYD2 gene FXYD2 Expert Review Amber Metal Metabolism Disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 17980699, 12763862, 18448590, 11062458, 25765846, 27014088 False 2 0;0;0 0.45 False ENSG00000137731 ENSG00000137731 HGNC:4026 TFRC gene TFRC Expert Review Amber Metal Metabolism Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of iron metabolism;TFRC-related combined immunodeficiency MONDO:0014760 Abnormality of iron homeostasis;HP:0011031;Abnormal blood transition element cation concentration;HP:0011030 26642240 False 2 0;0;0 0.45 False ENSG00000072274 ENSG00000072274 HGNC:11763