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 Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, with ataxia, MIM# 301310 Abnormal erythrocyte morphology;HP:0001877 11843825;4045952;11050011;34354969;10196363 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia 2, MIM# 618666 Abnormal erythrocyte morphology;HP:0001877 34304999;33907061;32546081;23556150 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 1, MIM# 210250 Abnormal erythrocyte morphology;HP:0001877 34304999;33907061;33807969 False 3 100;0;0 1.29 True ENSG00000143921 ENSG00000143921 HGNC:13887 ADA2 gene ADA2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Abnormal erythrocyte morphology;HP:0001877 24552284;24552285;33791889 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631 Abnormal erythrocyte morphology;HP:0001877 28211224;2542324;9432020;10233365;34321014 False 3 100;0;0 1.29 True ENSG00000106992 ENSG00000106992 HGNC:361 ALAS2 gene ALAS2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, 1, MIM# 300751 Abnormal erythrocyte morphology;HP:0001877 10029606;7949148;10029606 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII , MIM#611881 Abnormal erythrocyte morphology;HP:0001877 8598869;7331996;25392908 False 3 100;0;0 1.29 True ENSG00000149925 ENSG00000149925 HGNC:414 AMMECR1 gene AMMECR1 Expert Review;Expert Review Green Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Abnormal erythrocyte morphology;HP:0001877 27811305;28089922;29193635 False 3 100;0;0 1.29 True ENSG00000101935 ENSG00000101935 HGNC:467 AMN gene AMN Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 2, MIM# 618882 Abnormal erythrocyte morphology;HP:0001877 12590260;15024727;17285242;24156255;26040326 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spherocytosis, type 1, MIM# 182900 Abnormal erythrocyte morphology;HP:0001877 7883994;9590147;11167760;8640229 False 3 100;0;0 1.29 True ENSG00000029534 ENSG00000029534 HGNC:492 ATRX gene ATRX Expert Review Green;London South GLH;NHS GMS Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 Abnormal erythrocyte morphology;HP:0001877 19444090;17579672;11449489;7697714 False 3 100;0;0 1.29 True ENSG00000085224 ENSG00000085224 HGNC:886 C15orf41 gene C15orf41 Expert list;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631 Abnormal erythrocyte morphology;HP:0001877 29031773;23716552;29885034;32293259;31191338 False 3 100;0;0 1.29 True ENSG00000186073 ENSG00000186073 HGNC:26929 C1GALT1C1 gene C1GALT1C1 Expert Review Green;Literature Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Tn polyagglutination syndrome, somatic MIM#300622" Abnormal erythrocyte morphology;HP:0001877 18537974;16251947 False 3 100;0;0 1.29 True ENSG00000171155 ENSG00000171155 HGNC:24338 CD59 gene CD59 Expert Review Green;NHS GMS;North West GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300 Abnormal erythrocyte morphology;HP:0001877 1382994;24382084;23149847 False 3 100;0;0 1.29 True ENSG00000085063 ENSG00000085063 HGNC:1689 CDAN1 gene CDAN1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type Ia, 224120 Abnormal erythrocyte morphology;HP:0001877 16098079;12434312;32518175 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 1, MIM# 261100 Abnormal erythrocyte morphology;HP:0001877 17285242;15024727;10080186;21208123;17668238 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Methaemoglobinaemia, type I and II, MIM# 250800 Abnormal erythrocyte morphology;HP:0001877 18318771;15921385;2107882;1707593;12393396 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 Abnormal erythrocyte morphology;HP:0001877 21310277;21310276 False 3 100;0;0 1.29 True ENSG00000228716 ENSG00000228716 HGNC:2861 EGLN1 gene EGLN1 Expert list;Expert Review Green Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Erythrocytosis, familial, 3, MIM# 609820" Abnormal erythrocyte morphology;HP:0001877 19092153;16407130;17579185 False 3 100;0;0 1.29 True ENSG00000135766 ENSG00000135766 HGNC:1232 EPAS1 gene EPAS1 Expert list;Expert Review Green Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Erythrocytosis, familial, 4, MIM# 611783" Abnormal erythrocyte morphology;HP:0001877 18184961;18378852;22367913;18650473 False 3 100;0;0 1.29 True Other ENSG00000116016 ENSG00000116016 HGNC:3374 EPB41 gene EPB41 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elliptocytosis-1, MIM# 611804 Abnormal erythrocyte morphology;HP:0001877 8423235;1430200;3134067;33942936;32807033;27667160;21839655 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Spherocytosis, type 5, MIM# 612690 Abnormal erythrocyte morphology;HP:0001877 12176912;7772513;1558976;7803799 False 3 100;0;0 1.29 True ENSG00000166947 ENSG00000166947 HGNC:3381 EPO gene EPO Expert list;Expert Review Green Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Erythrocytosis, familial, 5, MIM# 617907;Diamond-Blackfan anaemia-like, MIM# 617911" Abnormal erythrocyte morphology;HP:0001877 27651169;29514032;32130275;20700488;30507031;28283061 False 3 100;0;0 1.29 True ENSG00000130427 ENSG00000130427 HGNC:3415 EPOR gene EPOR Expert list;Expert Review Green Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "[Erythrocytosis, familial, 1], MIM# 133100" Abnormal erythrocyte morphology;HP:0001877 8506290;9292543;30507031;33061762 False 3 100;0;0 1.29 True ENSG00000187266 ENSG00000187266 HGNC:3416 G6PD gene G6PD Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Haemolytic anaemia, G6PD deficient (favism), MIM# 300908 Abnormal erythrocyte morphology;HP:0001877 18177777 False 3 100;0;0 1.29 True ENSG00000160211 ENSG00000160211 HGNC:4057 GATA1 gene GATA1 Expert list;Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367;Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083 Abnormal erythrocyte morphology;HP:0001877 30228860;24766296;22706301 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450 Abnormal erythrocyte morphology;HP:0001877 10515893;28571779 False 3 100;0;0 1.29 True ENSG00000001084 ENSG00000001084 HGNC:4311 GIF gene GIF Expert Review Green;London South GLH;NHS GMS Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency, MIM# 261000 Abnormal erythrocyte morphology;HP:0001877 15738392;14576042;14695536 False 3 100;0;0 1.29 True ENSG00000134812 ENSG00000134812 HGNC:4268 GLRX5 gene GLRX5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Abnormal erythrocyte morphology;HP:0001877 20364084;25342667;17485548;30660387 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470 Abnormal erythrocyte morphology;HP:0001877 8499925;9856489;32103498 False 3 100;0;0 1.29 True ENSG00000105220 ENSG00000105220 HGNC:4458 GSS gene GSS Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900 Abnormal erythrocyte morphology;HP:0001877 8896573;31198081;29395598;29340523;28267090 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thalassemias, alpha-, MIM# 604131;Heinz body anemias, alpha-, MIM# 140700;Erythrocytosis 7, MIM# 617981 Abnormal erythrocyte morphology;HP:0001877 2050764 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thalassemia, alpha-, MIM# 604131;Heinz body anaemia, MIM# 140700;Erythrocytosis 7, MIM# 617981 Abnormal erythrocyte morphology;HP:0001877 2050764 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thalassemia, beta, MIM# 613985;Sickle cell anaemia, MIM# 603903;Methaemoglobinaemia, beta type, MIM# 617971;Hereditary persistence of fetal haemoglobin, MIM# 141749;Heinz body anaemia, MIM# 140700;Erythrocytosis 6, MIM# 617980 Abnormal erythrocyte morphology;HP:0001877 20067565;23637309 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thalassaemia, delta-;Thalassaemia due to Hb Lepore Abnormal erythrocyte morphology;HP:0001877 27630894;25490067 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fetal haemoglobin quantitative trait locus 1, 141749 Abnormal erythrocyte morphology;HP:0001877 26500940 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fetal haemoglobin quantitative trait locus 1, MIM# 141749;Cyanosis, transient neonatal, MIM# 613977 Abnormal erythrocyte morphology;HP:0001877 26500940 False 3 100;0;0 1.29 True ENSG00000196565 ENSG00000196565 HGNC:4832 HK1 gene HK1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to hexokinase deficiency, MIM# 235700 Abnormal erythrocyte morphology;HP:0001877 7655856;12393545;33361148;31119733;27282571 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, sideroblastic, 4, MIM# 182170 Abnormal erythrocyte morphology;HP:0001877 26491070 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dehydrated hereditary stomatocytosis 2, MIM# 616689 Abnormal erythrocyte morphology;HP:0001877 26148990;26198474;26178367;33519508;31091145;28619848 False 3 100;0;0 1.29 True ENSG00000104783 ENSG00000104783 HGNC:6293 KLF1 gene KLF1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type IV, MIM# 613673;MONDO:0013355;Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Abnormal erythrocyte morphology;HP:0001877 21055716;33339573;32815883;32221653;32032242;31818881;24443441;25724378;28361594;34554218 False 3 100;0;0 1.29 True ENSG00000105610 ENSG00000105610 HGNC:6345 LPIN2 gene LPIN2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, MIM# 609628;Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Abnormal erythrocyte morphology;HP:0001877 15994876;33993107;33670882;33314777;31727123 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Abnormal erythrocyte morphology;HP:0001877 8968736;8968737;9683607;12068375 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Abnormal erythrocyte morphology;HP:0001877 12555939;15714522 False 3 100;0;0 1.29 True ENSG00000124275 ENSG00000124275 HGNC:7473 NDUFB11 gene NDUFB11 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked sideroblastic anaemia Abnormal erythrocyte morphology;HP:0001877 27488349 False 3 50;50;0 1.29 True ENSG00000147123 ENSG00000147123 HGNC:20372 NT5C3A gene NT5C3A Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120 Abnormal erythrocyte morphology;HP:0001877 11369620;12714505;30951028;25153905 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, MIM# 232800 Abnormal erythrocyte morphology;HP:0001877 7513946;2140573;24427140;27066546;30792690 False 3 100;0;0 1.29 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGK1 gene PGK1 Expert Review Green;London South GLH;NHS GMS Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency MIM# 300653 Abnormal erythrocyte morphology;HP:0001877 16740138;6412025;28580215;20151463 False 3 100;0;0 1.29 True ENSG00000102144 ENSG00000102144 HGNC:8896 PIEZO1 gene PIEZO1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380;Erythrocytosis Abnormal erythrocyte morphology;HP:0001877 22529292;21944700;23695678;23479567;33181827 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900;Pyruvate kinase deficiency, MIM# 266200 Abnormal erythrocyte morphology;HP:0001877 8664896;14014643;7706479 False 3 100;0;0 1.29 True ENSG00000143627 ENSG00000143627 HGNC:9020 PUS1 gene PUS1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Abnormal erythrocyte morphology;HP:0001877 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anaemia, haemolytic, Rh-null, regulator type MIM# 268150;Overhydrated hereditary stomatocytosis MIM#185000 Abnormal erythrocyte morphology;HP:0001877 30990901;28470789;4962358;18931342;21849667;23406318 False 3 100;0;0 1.29 True ENSG00000112077 ENSG00000112077 HGNC:10006 RHCE gene RHCE Expert list;Expert Review Green Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Rh-null disease, amorph type, MIM# 617970 Abnormal erythrocyte morphology;HP:0001877 9657766;16271106;25413218 False 3 100;0;0 1.29 True ENSG00000188672 ENSG00000188672 HGNC:10008 RPL11 gene RPL11 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938 Abnormal erythrocyte morphology;HP:0001877 19061985;23812780;23718193 False 3 100;0;0 1.29 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 12, MIM# 615550 Abnormal erythrocyte morphology;HP:0001877 23812780;29599205 False 3 100;0;0 1.29 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;London South GLH;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 11, MIM# 614900 Abnormal erythrocyte morphology;HP:0001877 22431104;39268718 False 3 50;0;50 1.29 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 5, MIM# 612528 Abnormal erythrocyte morphology;HP:0001877 18535205;32241839 False 3 100;0;0 1.29 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 6, MIM# 612561;MONDO:0012937 Abnormal erythrocyte morphology;HP:0001877 19061985 False 3 100;0;0 1.29 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 9, MIM# 613308 Abnormal erythrocyte morphology;HP:0001877 20116044;23718193;25946618 False 3 100;0;0 1.29 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 4, MIM# 612527 Abnormal erythrocyte morphology;HP:0001877 17647292;22045982;19953637;19061985 False 3 100;0;0 1.29 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 1, MIM# 105650;MONDO:0007110 Abnormal erythrocyte morphology;HP:0001877 9988267;10590074 False 3 100;0;0 1.29 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 3, MIM# 610629 Abnormal erythrocyte morphology;HP:0001877 17186470;23812780;25946618 False 3 100;0;0 1.29 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217 Abnormal erythrocyte morphology;HP:0001877 24942156;20116044;23812780 False 3 100;0;0 1.29 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 8, MIM# 612563;MONDO:0012939 Abnormal erythrocyte morphology;HP:0001877 19061985;23718193;27882484;32772263 False 3 100;0;0 1.29 True ENSG00000171863 ENSG00000171863 HGNC:10440 SBDS gene SBDS Expert Review Green;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 Abnormal erythrocyte morphology;HP:0001877 False 3 100;0;0 1.29 True ENSG00000126524 ENSG00000126524 HGNC:19440 SEC23B gene SEC23B Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type II , MIM#224100 Abnormal erythrocyte morphology;HP:0001877 19561605;19621418 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100 Abnormal erythrocyte morphology;HP:0001877 16160008;16439678;15459009;21871825 False 3 100;0;0 1.29 True ENSG00000110911 ENSG00000110911 HGNC:10908 SLC19A2 gene SLC19A2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270 Abnormal erythrocyte morphology;HP:0001877 10391221;10978358 False 3 100;0;0 1.29 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Expert Review Green;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Abnormal erythrocyte morphology;HP:0001877 19412178 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885;delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia;haemolytic anaemia Abnormal erythrocyte morphology;HP:0001877 22492876;21791420;27353637 False 3 100;0;0 1.29 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review;Expert Review Green Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 Abnormal erythrocyte morphology;HP:0001877 22341972;22341971;29193034 False 3 100;0;0 1.29 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC4A1 gene SLC4A1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cryohydrocytosis MIM# 185020;Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590;Ovalocytosis, SA type MIM# 166900;Spherocytosis, type 4 MIM# 612653 Abnormal erythrocyte morphology;HP:0001877 1722314;16227998;15211439;10926824;7949112;16392641;8640229;16227998;8640229;16227998 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Elliptocytosis-2 MIM# 130600;Pyropoikilocytosis MIM# 266140;Spherocytosis, type 3 MIM# 270970 Abnormal erythrocyte morphology;HP:0001877 1679439;3940543;4077050;9075575;8018926;29484404;27667160;31333484;8941647;3785322 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spherocytosis, type 2 MIM# 616649;Elliptocytosis-3 MIM# 617948;Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 Abnormal erythrocyte morphology;HP:0001877 8226774;3276733;19538529;8102379;9075575;7883966;9005995;32256302 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency MIM# 275350;Decreased Ig levels;Megaloblastic anaemia;pancytopaenia;Reticulocytopaenia;failure to thrive;diarrhoea;hypogammaglobulinaemia;pallor;hypotonia;respiratory infection;if untreated (B12) for prolonged periods results in intellectual disability Abnormal erythrocyte morphology;HP:0001877 10518276;7849710;32841161;33023511;30124850 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Atransferrinaemia MIM# 209300;iron overload;hypochromic anaemia;low serum transferrin;Hemosiderosis of the heart and/or liver;Congestive heart failure Abnormal erythrocyte morphology;HP:0001877 8187613;1862777;10660486;3472216;11110675 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Iron-refractory iron deficiency anaemia MIM# 206200;Iron malabsorption;hypochromic microcytic anaemia Abnormal erythrocyte morphology;HP:0001877 18408718;8596229;18596229;19592582 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512;chronic haemolytic anaemia;neuromuscular dysfunction;intracellular accumulation of dihydroxyacetone phosphate (DHAP) Abnormal erythrocyte morphology;HP:0001877 11698297;9338582;32873690;8503454 False 3 100;0;0 1.29 True ENSG00000111669 ENSG00000111669 HGNC:12009 TRNT1 gene TRNT1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Abnormal erythrocyte morphology;HP:0001877 25193871;23553769;29170023;27389523 False 3 100;0;0 1.29 True ENSG00000072756 ENSG00000072756 HGNC:17341 UMPS gene UMPS Expert Review Green;London South GLH;NHS GMS Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Orotic aciduria MIM# 258900;megaloblastic anaemia;orotic acid crystalluria;ID;immunodeficiencies Abnormal erythrocyte morphology;HP:0001877 9042911;33489760 False 3 100;0;0 1.29 True ENSG00000114491 ENSG00000114491 HGNC:12563 VHL gene VHL Expert list;Expert Review Green Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Erythrocytosis, familial, 2, MIM# 263400" Abnormal erythrocyte morphology;HP:0001877 12844285;21454469;24729484;23403324 False 3 100;0;0 1.29 True Other ENSG00000134086 ENSG00000134086 HGNC:12687 VPS4A gene VPS4A Expert Review Green;Literature Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CIMDAG syndrome MIM# 619273 Abnormal erythrocyte morphology;HP:0001877 33186543;33186545 False 3 100;0;0 1.29 True Other ENSG00000132612 ENSG00000132612 HGNC:13488 XK gene XK Expert Review Green;London South GLH;NHS GMS Red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females McLeod syndrome with or without chronic granulomatous disease MIM# 300842;absence of red blood cell Kx antigen;weak expression of Kell red blood cell antigens;neuroacanthocytosis (peripheral and central nervous systems);cardiovascular abnormalities;myopathy Abnormal erythrocyte morphology;HP:0001877 17683354;11761473;8004674;30128557;30800707 False 3 100;0;0 1.29 True 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 Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561;sideroblastic anaemia;muscle atrophy;myopathy;lactic acidosis;Hypertrophic cardiomyopathy;Hepatomegaly;Decreased cytochrome C oxidase activity Abnormal erythrocyte morphology;HP:0001877 23918765;22504945;20598274;24430573;24344687 False 3 100;0;0 1.29 True ENSG00000139131 ENSG00000139131 HGNC:24249