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;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Anemia, sideroblastic, with ataxia;Sideroblastic Anemia and Ataxia;301310 Sideroblastic Anemia and Ataxia;301310 Sideroblastic anaemia;Anemia, sideroblastic, with ataxia, 301310 11843825;4045952;11050011 False 3 80;20;0 3.23 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCG5 gene ABCG5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal sitosterolaemia;210250 sitosterolaemia False 3 80;20;0 3.23 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal sitosterolaemia;210250 sitosterolaemia False 3 80;20;0 3.23 False ENSG00000143921 ENSG00000143921 HGNC:13887 ADA2 gene ADA2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688;Sneddon syndrome, OMIM:182410;Diamond-Blackfan Anemia False 3 50;50;0 3.23 False ENSG00000093072 ENSG00000093072 HGNC:1839 AK1 gene AK1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 612631 Hemolytic anemia due to adenylate kinase deficiency;Hemolytic anemia due to adenylate kinase deficiency, 612631 28211224 False 3 60;40;0 3.23 False ENSG00000106992 ENSG00000106992 HGNC:361 ALAS2 gene ALAS2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1, OMIM:300751 10029606 False 3 80;20;0 3.23 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDOA gene ALDOA Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease due to aldolase A deficiency;611881 Aldolase A deficiency;Enzyme Disorder;Aldolase A deficiency;Glycogen storage disease XII, 611881;611881 Glycogen storage disease XII;Glycogen storage disease 8598869;7331996 False 3 80;20;0 3.23 False ENSG00000149925 ENSG00000149925 HGNC:414 AMN gene AMN Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, 261100;261100 Megaloblastic anemia-1, Norwegian type 12590260;17285242 False 3 40;60;0 3.23 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANK1 gene ANK1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 182900 Spherocytosis, type 1;182900 RBC membrane abnormality;RBC membrane abnormality;Spherocytosis, type 1,182900;Spherocytosis, type 1 7883994;11167760;9590147 False 3 80;20;0 3.23 False ENSG00000029534 ENSG00000029534 HGNC:492 C15orf41 gene C15orf41 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ib, OMIM:615631;Congenital dyserythropoietic anemia type type 1B, MONDO:0014285 23716552;29031773;29885034;32518175 False 3 80;20;0 3.23 False ENSG00000186073 ENSG00000186073 HGNC:26929 CD59 gene CD59 Expert Review Green;NHS GMS;North West GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 305000 Dyskeratosis congenita, X-linked;Dyskeratosis congenita, X-linked, 305000 1382994;23149847;24382084 False 3 67;33;0 3.23 False ENSG00000085063 ENSG00000085063 HGNC:1689 CDAN1 gene CDAN1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 12434312;16098079;32518175 False 3 83;17;0 3.23 False ENSG00000140326 ENSG00000140326 HGNC:1713 CUBN gene CUBN Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia;261100 Megaloblastic anemia-1, Finnish type 17285242;15024727 False 3 40;60;0 3.23 False ENSG00000107611 ENSG00000107611 HGNC:2548 CYB5R3 gene CYB5R3 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Methaemoglobinaemia type I and II, 250800;250800 Methemoglobinemia;250800 Methaemoglobinaemia type I and II;Methaemoglobinaemia 18318771;15921385 False 3 80;20;0 3.23 False ENSG00000100243 ENSG00000100243 HGNC:2873 DHFR gene DHFR Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency;Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 21310276;21310277 False 3 60;40;0 3.23 False ENSG00000228716 ENSG00000228716 HGNC:2861 EPB41 gene EPB41 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 611804 Elliptocytosis-1;611804 Hereditary elliptocytosis;Elliptocytosis;RBC membrane abnormality;Hereditary elliptocytosis;Elliptocytosis-1,611804 8423235;1430200;3134067 False 3 80;20;0 3.23 False ENSG00000159023 ENSG00000159023 HGNC:3377 EPB42 gene EPB42 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Spherocytosis, type 5, 612690;EPB42-related hereditary spherocytosis;612690 Spherocytosis, type 5;Spherocytosis, Recessive;Elliptocytosis;Minkowski-Chauffard disease;RBC membrane abnormality;Hereditary spherocytosis type 5;612690 Hereditary spherocytosis type 5 12176912;7772513;1558976 False 3 80;20;0 3.23 False ENSG00000166947 ENSG00000166947 HGNC:3381 G6PD gene G6PD Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hemolytic anemia due to G6PD deficiency, 300908;300908 Hemolytic anemia due to G6PD deficiency;300908 Hemolytic anemia, G6PD deficient (favism);Enzyme Disorder 18177777 False 3 80;20;0 3.23 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA1 gene GATA1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Diamond-Blackfan anaemia;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities;Diamond Blackfan Anaemia;300367 Diamond Blackfan Anaemia;Myelodysplastic syndrome (MDS), Paediatric;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 22706301;24766296;30228860 False 3 80;20;0 3.23 False ENSG00000102145 ENSG00000102145 HGNC:4170 GCLC gene GCLC Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency;230450 Glutamate-cysteine ligase deficiency;Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency;Enzyme Disorder 10515893 False 3 80;20;0 3.23 False ENSG00000001084 ENSG00000001084 HGNC:4311 GIF gene GIF Expert Review Green;London South GLH;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 261000 Intrinsic factor deficiency 14576042;15738392 False 3 50;50;0 3.23 False ENSG00000134812 ENSG00000134812 HGNC:4268 GLRX5 gene GLRX5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive;Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;616860 Pyridoxine refractory sideroblastic anaemia 3 20364084;25342667;17485548 False 3 80;20;0 3.23 False ENSG00000182512 ENSG00000182512 HGNC:20134 GPI gene GPI Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470;613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 411100 False 3 80;20;0 3.23 False ENSG00000105220 ENSG00000105220 HGNC:4458 GSR gene GSR Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to glutathione reductase deficiency, OMIM:618660 17185460;31122244 False 3 60;40;0 3.23 False ENSG00000104687 ENSG00000104687 HGNC:4623 GSS gene GSS Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency, 266130;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Enzyme Disorder;231900 Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency;266130 Glutathione synthetase deficiency 8896573 False 3 80;20;0 3.23 False ENSG00000100983 ENSG00000100983 HGNC:4624 HBA1 gene HBA1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocytosis 7, OMIM:617981;Heinz body anemias, alpha-, OMIM:140700;Hemoglobin H disease, nondeletional, OMIM:613978;Methemoglobinemia, alpha type, OMIM:617973;Thalassemias, alpha-, OMIM:604131 2050764 False 3 80;20;0 3.23 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocytosis 7, OMIM:617981;Heinz body anemia, OMIM:140700;Hemoglobin H disease, deletional and nondeletional, OMIM:613978;Thalassemia, alpha-, OMIM:604131 2050764 False 3 80;20;0 3.23 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Delta-beta thalassemia, OMIM:141749;Heinz body anemia, OMIM:140700;Hereditary persistence of fetal hemoglobin, OMIM:141749;Methemoglobinemia, beta type, OMIM:617971;Thalassemia, beta, OMIM:613985;Thalassemia-beta, dominant inclusion-body, OMIM:603902;Sickle cell anemia, OMIM:603903 23637309;20067565 False 3 80;20;0 3.23 False ENSG00000244734 ENSG00000244734 HGNC:4827 HBD gene HBD Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore;Thalassemia, delta;Thalassemia due to Hb Lepore;Thalassemiadue to HbLepore;Thalassemia,delta 27630894;25490067 False 3 80;20;0 3.23 False ENSG00000223609 ENSG00000223609 HGNC:4829 HBG1 gene HBG1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fetal hemoglobin quantitative trait locus 1, OMIM:141749;Hereditary persistance of fetal haemoglobin;Globin Disorder 26500940 False 3 80;20;0 3.23 False ENSG00000213934 ENSG00000213934 HGNC:4831 HBG2 gene HBG2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fetal hemoglobin quantitative trait locus 1, OMIM:141749;Cyanosis, transient neonatal, OMIM:613977;Globin Disorder 26500940 False 3 80;20;0 3.23 False ENSG00000196565 ENSG00000196565 HGNC:4832 HEATR3 gene HEATR3 Expert Review Green;Literature;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Anemia;Thrombocytopenia;Growth delay;Short stature;Abnormality of the skeletal system;Abnormality of finger;Abnormality of the thumb;Intellectual disability;Obesity;Abnormality of the face 35213692 False 3 67;33;0 3.23 False ENSG00000155393 ENSG00000155393 HGNC:26087 HK1 gene HK1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to hexokinase deficiency, OMIM:235700;Enzyme disorder 12393545;7655856 False 3 80;20;0 3.23 False ENSG00000156515 ENSG00000156515 HGNC:4922 HSPA9 gene HSPA9 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted sideroblastic anaemia;182170 Sideroblastic anaemia 4;182170 sideroblastic anaemia type 4;Sideroblastic anaemia type 4, 182170 26491070 False 3 80;20;0 3.23 False ENSG00000113013 ENSG00000113013 HGNC:5244 KCNN4 gene KCNN4 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 616689 Dehydrated hereditary stomatocytosis 2;Hereditary Xerocytosis 26178367;26148990 False 3 80;20;0 3.23 False ENSG00000104783 ENSG00000104783 HGNC:6293 KIF23 gene KIF23 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital dyserythropoietic anemia (CDA);Enzyme Disorder;CDA III;Anaemia, dyserythropoietic congenital, type III;Congenital dyserythropoietic anemia type III;605064 Congenital dyserythropoietic anaemia type 3 23570799 False 3 67;17;17 3.23 False ENSG00000137807 ENSG00000137807 HGNC:6392 KLF1 gene KLF1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type IV, OMIM:613673 21055716;29200155;24443441;25724378;27282573;28361594;28369821 False 3 80;20;0 3.23 False ENSG00000105610 ENSG00000105610 HGNC:6345 LARS2 gene LARS2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 26537577;32442335 False 3 50;50;0 3.23 False ENSG00000011376 ENSG00000011376 HGNC:17095 LPIN2 gene LPIN2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628;Microcytic anemia;Congenital dyserythropoietic anemia 17330256;15994876 False 3 60;40;0 3.23 False ENSG00000101577 ENSG00000101577 HGNC:14450 MTR gene MTR Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 250940 Homocystinuria-megaloblastic anemia, cblG complementation type;Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 9683607;12068375 False 3 60;40;0 3.23 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type, 236270;236270 Homocystinuria-megaloblastic anemia, cbl E type 12555939;15714522 False 3 60;40;0 3.23 False ENSG00000124275 ENSG00000124275 HGNC:7473 NT5C3A gene NT5C3A Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120;266120 Anemia, hemolytic, due to UMPH1 deficiency 12714505;11369620 False 3 80;20;0 3.23 False ENSG00000122643 ENSG00000122643 HGNC:17820 PFKM gene PFKM Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 232800 Glycogen storage disease VII;Glycogen storage disease VII, 232800 2140573;7513946 False 3 80;20;0 3.23 False ENSG00000152556 ENSG00000152556 HGNC:8877 PIEZO1 gene PIEZO1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380;Hereditary xerocytosis 23695678;22529292 False 3 80;20;0 3.23 False ENSG00000103335 ENSG00000103335 HGNC:28993 PKLR gene PKLR Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency, OMIM:266200 7706479;14014643;8664896 False 3 80;20;0 3.23 False ENSG00000143627 ENSG00000143627 HGNC:9020 PUS1 gene PUS1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1;Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462;600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 15772074;15108122 False 3 60;40;0 3.23 False ENSG00000177192 ENSG00000177192 HGNC:15508 RHAG gene RHAG Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR);Overhydrated hereditary stomatocytosis, OMIM:185000 (AD) 18931342 False 3 80;20;0 3.23 False ENSG00000112077 ENSG00000112077 HGNC:10006 RPL11 gene RPL11 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond_Blackfan Anemia 7;Inherited Bone Marrow Failure Syndromes;612562 Diamond_Blackfan Anemia 7;Diamond-Blackfan Anemia 7;Diamond-Blackfan Anemia;612562 Diamond-Blackfan anemia 7;Diamond-Blackfan anemia 7, 612562;DIAMOND-BLACKFAN ANEMIA 7;Diamond Blackfan anemia 23718193;23812780;19061985 False 3 80;20;0 3.23 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 12, 615550;615550 ?Diamond-Blackfan anemia 1;615550 ?Diamond-Blackfan anaemia 12 23812780 False 3 80;20;0 3.23 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL17 gene RPL17 Expert Review Green;Literature;NHS GMS Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 22, OMIM:621262;Diamond-Blackfan anemia 22, MONDO:0979244 39088281 False 3 100;0;0 3.23 False ENSG00000265681 ENSG00000265681 HGNC:10307 RPL27 gene RPL27 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 16, 617408;Diamond-Blackfan anemia 25424902 False 3 67;33;0 3.23 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown N/A ? Diamond-Blackfan Anaemia 25424902;25042156 False 3 67;33;0 3.23 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL35A gene RPL35A Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 612528 Diamond_Blackfan Anemia 5;Diamond-Blackfan Anemia 5;Diamond-Blackfan anemia 5, 612528;Diamond-Blackfan Anemia;612528 Diamond-Blackfan anemia 5;DIAMOND-BLACKFAN ANEMIA 5;Inherited Bone Marrow Failure Syndromes;Diamond_Blackfan Anemia 5;Diamond Blackfan anemia 18535205 False 3 80;20;0 3.23 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 6, 612561;Diamond-Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6;Diamond_Blackfan Anemia 6;612561 Diamond_Blackfan Anemia 6;Diamond-Blackfan Anemia;612561 Diamond-Blackfan anemia 6;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 19061985 False 3 80;20;0 3.23 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPL9 gene RPL9 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia;?Diamond-Blackfan anaemia;N/A Diamond-Blackfan anemia 29114930 False 3 80;20;0 3.23 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS10 gene RPS10 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 613308 Diamond_Blackfan Anemia 9;Diamond-Blackfan Anemia 9;Diamond_Blackfan Anemia 9;613308 Diamond-Blackfan anemia 9;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;DIAMOND-BLACKFAN ANEMIA 9;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 20116044 False 3 80;20;0 3.23 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4, 612527;612527 Diamond-Blackfan anemia 4 22045982;19953637;17647292;19061985 False 3 75;25;0 3.23 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 105650 Diamond_Blackfan Anemia 1;Diamond_Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;DIAMOND-BLACKFAN ANEMIA 1;105650 Diamond-Blackfan anemia 1;Diamond-Blackfan Anemia;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 9988267 False 3 80;20;0 3.23 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 610629 Diamond-blackfan anemia 3;Diamond_Blackfan Anemia 3;Diamond-Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3;Diamond-Blackfan Anemia;610629 Diamond_Blackfan Anemia 3;Inherited Bone Marrow Failure Syndromes;Diamond-blackfan anemia 3, 610629;Diamond Blackfan anemia 23812780;17186470 False 3 80;20;0 3.23 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 613309 Diamond-Blackfan anemia 10;Inherited Bone Marrow Failure Syndromes;613309 Diamond_Blackfan Anemia 10;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond Blackfan anemia 23812780;24942156;20116044 False 3 80;20;0 3.23 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS29 gene RPS29 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 615909 Diamond-Blackfan anemia 13;Diamond-Blackfan anemia 13, 615909 24829207 False 3 80;20;0 3.23 False ENSG00000213741 ENSG00000213741 HGNC:10419 RPS7 gene RPS7 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DIAMOND-BLACKFAN ANEMIA 8;612563 Diamond-Blackfan anemia 8;Diamond_Blackfan Anemia 8;612563 Diamond_Blackfan Anemia 8;Diamond-Blackfan anemia 8, 612563;Diamond-Blackfan Anemia;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 23718193;27882484;19061985 False 3 80;20;0 3.23 False ENSG00000171863 ENSG00000171863 HGNC:10440 SBDS gene SBDS Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome;260400 Shwachman-Diamond syndrome False 3 75;25;0 3.23 False ENSG00000126524 ENSG00000126524 HGNC:19440 SEC23B gene SEC23B Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100 19561605 False 3 80;20;0 3.23 False ENSG00000101310 ENSG00000101310 HGNC:10702 SLC11A2 gene SLC11A2 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Anemia, hypochromic microcytic, with iron overload 1, 206100;206100 Anemia, hypochromic microcytic, with iron overload 1 16160008;16439678;15459009 False 3 75;25;0 3.23 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC19A2 gene SLC19A2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 10978358;10391221 False 3 80;20;0 3.23 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 205950 Pyridoxine refractory sideroblastic anaemia 2;205950 Anemia, sideroblastic, 2, pyridoxine-refractory;Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 19412178 False 3 80;20;0 3.23 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC2A1 gene SLC2A1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia;Pyridoxine-refractory sideroblastic anemia;608885 Stomatin-deficient cryohydrocytosis with neurologic defects;Stomatocytosis 22492876;21791420 False 3 80;20;0 3.23 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC4A1 gene SLC4A1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 612653 Spherocytosis, type 4;Ovalocytosis, SA type, 166900;166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis;Spherocytosis, type 4, 612653;Cryohydrocytosis,185020;RBC membrane abnormality;Haemolytic Anemia;166900 Ovalocytosis, SA type 1722314 False 3 80;20;0 3.23 False ENSG00000004939 ENSG00000004939 HGNC:11027 SPTA1 gene SPTA1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elliptocytosis-2, OMIM:130600;Pyropoikilocytosis, OMIM:266140;Spherocytosis, type 3, OMIM:270970 3940543;4077050;1679439 False 3 80;20;0 3.23 False ENSG00000163554 ENSG00000163554 HGNC:11272 SPTB gene SPTB Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spherocytosis,616649;Elliptocytosis;Anemia, neonatal hemolytic, fatal and near-fatal;RBC membrane abnormality;617948 Elliptocytosis-3;616649 Spherocytosis, type 2;616649 Anemia, neonatal hemolytic, fatal and near-fatal 3276733;8226774 False 3 80;20;0 3.23 False ENSG00000070182 ENSG00000070182 HGNC:11274 TCN2 gene TCN2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal megaloblastic bone marrow;failure to thrive;275350 Transcobalamin II deficiency;pancytopenia;neutropenic colitis;thrombocytopenia;Transcobalamin II deficiency;neutropenia;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow;can have a presentation similar to severe combined immunodeficiency;Agammaglobulinemia 7849710;10518276 False 3 60;40;0 3.23 False ENSG00000185339 ENSG00000185339 HGNC:11653 TF gene TF Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Atransferrinemia, 209300;Congenital hypotransferrinemia;209300 Congenital hypotransferrinemia 3472216;1862777;11110675;8187613;10660486 False 3 50;50;0 3.23 False ENSG00000091513 ENSG00000091513 HGNC:11740 TMPRSS6 gene TMPRSS6 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Iron-Refractory Iron Deficiency Anemia;206200 Iron refractoryirondeficiencyanemia;Iron refractoryirondeficiencyanemia,206200 18408718 False 3 75;25;0 3.23 False ENSG00000187045 ENSG00000187045 HGNC:16517 TPI1 gene TPI1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 615512 Hemolytic anemia due to triosephosphate isomerase deficiency;Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder 9338582;11698297 False 3 80;20;0 3.23 False ENSG00000111669 ENSG00000111669 HGNC:12009 TRNT1 gene TRNT1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 616084 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay;sideroblastic anaemia False 3 67;33;0 3.23 False ENSG00000072756 ENSG00000072756 HGNC:17341 UMPS gene UMPS Expert Review Green;London South GLH;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 258900 Orotic aciduria with megaloblastic anaemia 9042911 False 3 50;50;0 3.23 False ENSG00000114491 ENSG00000114491 HGNC:12563 VPS4A gene VPS4A Expert Review Green;Literature;Research Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome 33186545;33186543;33460484 False 3 100;0;0 3.23 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132612 ENSG00000132612 HGNC:13488 XK gene XK Expert Review Green;London South GLH;NHS GMS Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 17683354;11761473 False 3 50;50;0 3.23 False ENSG00000047597 ENSG00000047597 HGNC:12811 YARS2 gene YARS2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561;613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 22504945;23918765;20598274 False 3 60;40;0 3.23 False ENSG00000139131 ENSG00000139131 HGNC:24249 ADH5 gene ADH5 Expert Review Amber;Literature Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Aplastic anaemia;Mental retardation;Skin hyperpigmentation, Short stature;Microcephaly 33147438;33355142 False 2 100;0;0 3.23 False ENSG00000197894 ENSG00000197894 HGNC:253 CPOX gene CPOX Expert Review Amber;Other Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892 7757079;9454777;21103937;30828546;38940544;40296768 False 2 100;0;0 3.23 False ENSG00000080819 ENSG00000080819 HGNC:2321 HSCB gene HSCB Expert Review Amber;Literature Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal ?Anemia, sideroblastic, 5, OMIM:619523 32634119 False 2 0;100;0 3.23 False ENSG00000100209 ENSG00000100209 HGNC:28913 NDUFB11 gene NDUFB11 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology sideroblastic anaemia False 2 0;100;0 3.23 False ENSG00000147123 ENSG00000147123 HGNC:20372 NHLRC2 gene NHLRC2 Expert Review Amber;Literature Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal FINCA syndrome OMIM:618278 29423877;32435055 False 2 100;0;0 3.23 False ENSG00000196865 ENSG00000196865 HGNC:24731 NHP2 gene NHP2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 613987 Dyskeratosis congenita, autosomal recessive 2 False 2 0;100;0 3.23 False ENSG00000145912 ENSG00000145912 HGNC:14377 PGK1 gene PGK1 Expert Review Amber;London South GLH;NHS GMS Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 300653 Phosphoglycerate kinase 1 deficiency 6412025;16740138 False 2 50;50;0 3.23 False ENSG00000102144 ENSG00000102144 HGNC:8896 RPL18 gene RPL18 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 28280134 False 2 0;100;0 3.23 False ENSG00000063177 ENSG00000063177 HGNC:10310 RPS27 gene RPS27 Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 17, OMIM:617409 23718193;25424902 False 2 33;50;17 3.23 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS28 gene RPS28 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis;Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 24942156;20301769 False 2 0;100;0 3.23 False ENSG00000233927 ENSG00000233927 HGNC:10418 SLC19A1 gene SLC19A1 Expert Review Amber;Literature Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal ?Megaloblastic anemia, folate-responsive, OMIM:601775;Immunodeficiency 114, folate-responsive, OMIM:620603 32276275;36517554;36745868 False 2 50;0;50 3.23 False ENSG00000173638 ENSG00000173638 HGNC:10937 STEAP3 gene STEAP3 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology hypochromic anaemia False 2 0;100;0 3.23 False ENSG00000115107 ENSG00000115107 HGNC:24592 TSR2 gene TSR2 Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis;?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 24942156;20301769 False 2 0;100;0 3.23 False ENSG00000158526 ENSG00000158526 HGNC:25455 ATRX gene ATRX Expert Review Red;London South GLH;NHS GMS Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 301040 Alpha-thalassemia/mental retardation syndrome 11449489;17579672;19444090 False 1 50;50;0 3.23 False ENSG00000085224 ENSG00000085224 HGNC:886 COX4I2 gene COX4I2 Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714;612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 19268275 False 1 17;67;17 3.23 False ENSG00000131055 ENSG00000131055 HGNC:16232 CYB5A gene CYB5A Expert Review Red;London South GLH;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 250790 Methemoglobinemia and ambiguous genitalia 8168836;20080843 False 1 0;50;50 3.23 False ENSG00000166347 ENSG00000166347 HGNC:2570 DKC1 gene DKC1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Rare anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 305000 Dyskeratosis congenita, X-linked False 1 50;50;0 3.23 False ENSG00000130826 ENSG00000130826 HGNC:2890 FTCD gene FTCD Expert Review Red;London South GLH;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 229100 Glutamate formiminotransferase deficiency 12815595 False 1 50;50;0 3.23 False ENSG00000160282 ENSG00000160282 HGNC:3974 FUT2 gene FUT2 Literature Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39350204 False 1 0;0;0 3.23 False ENSG00000176920 ENSG00000176920 HGNC:4013 GPX1 gene GPX1 Expert Review Red;London South GLH;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 614164 Hemolytic anemia due to glutathione peroxidase deficiency 1131421 False 1 0;50;50 3.23 False ENSG00000233276 ENSG00000233276 HGNC:4553 HBE1 gene HBE1 Expert Review Red;London South GLH;NHS GMS Rare anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Epsilon-gamma-delta-beta thalassaemia 17712794 False 1 50;50;0 3.23 False ENSG00000213931 ENSG00000213931 HGNC:4830 RPL26 gene RPL26 Expert Review Red;London South GLH;NHS GMS;Wessex and West Midlands GLH Rare anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 11, 614900;614900 ?Diamond-Blackfan anemia 11 22431104 False 1 50;25;25 3.23 False ENSG00000161970 ENSG00000161970 HGNC:10327 SF3B1 gene SF3B1 Expert Review Red;London South GLH;NHS GMS Rare anaemia Haematology Unknown 605590 Refractory anaemia with ring sideroblasts 21995386;28188970 False 1 50;50;0 3.23 False ENSG00000115524 ENSG00000115524 HGNC:10768