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 AK1 gene AK1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to adenylate kinase deficiency, 612631 False 1 0;0;0 0.99 False ENSG00000106992 ENSG00000106992 HGNC:361 AMN gene AMN Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Megaloblastic anemia-1, Norwegian type, 261100 False 1 0;0;0 0.99 False ENSG00000166126 ENSG00000166126 HGNC:14604 C15orf41 gene C15orf41 Eligibility statement prior genetic testing;Expert Review Red;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Congenital Dyserythropoietic Anemia False 1 0;0;0 0.99 False ENSG00000186073 ENSG00000186073 HGNC:26929 CD59 gene CD59 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 False 1 0;0;0 0.99 False ENSG00000085063 ENSG00000085063 HGNC:1689 DHFR gene DHFR Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 False 1 0;0;0 0.99 False ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000130826 ENSG00000130826 HGNC:2890 EPHX1 gene EPHX1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;0 0.99 False ENSG00000143819 ENSG00000143819 HGNC:3401 FANCM gene FANCM Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group M, 614087 False 1 0;0;0 0.99 False ENSG00000187790 ENSG00000187790 HGNC:23168 GCLC gene GCLC Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446 False 1 0;0;0 0.99 False ENSG00000001084 ENSG00000001084 HGNC:4311 GLRX5 gene GLRX5 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 False 1 0;0;0 0.99 False ENSG00000182512 ENSG00000182512 HGNC:20134 GPI gene GPI Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 False 1 0;0;0 0.99 False ENSG00000105220 ENSG00000105220 HGNC:4458 GPX1 gene GPX1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to glutathione peroxidase deficiency, 614164 False 1 0;0;0 0.99 False ENSG00000233276 ENSG00000233276 HGNC:4553 GSS gene GSS Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130 False 1 0;0;0 0.99 False ENSG00000100983 ENSG00000100983 HGNC:4624 HBA1 gene HBA1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978;5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978 False 1 0;0;0 0.99 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978;Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 False 1 0;0;0 0.99 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162;Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162 False 1 0;0;0 0.99 False ENSG00000244734 ENSG00000244734 HGNC:4827 HBD gene HBD Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Thalassemia,delta ThalassemiaduetoHbLepore;Thalassemia,delta ThalassemiaduetoHbLepore False 1 0;0;0 0.99 False ENSG00000223609 ENSG00000223609 HGNC:4829 HEPH gene HEPH UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000089472 ENSG00000089472 HGNC:4866 HK1 gene HK1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285 False 1 0;0;0 0.99 False ENSG00000156515 ENSG00000156515 HGNC:4922 IFNG gene IFNG Illumina TruGenome Clinical Sequencing Services Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 1 0;0;0 0.99 False ENSG00000111537 ENSG00000111537 HGNC:5438 KIF23 gene KIF23 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000137807 ENSG00000137807 HGNC:6392 MTR gene MTR Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;0 0.99 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;0 0.99 False ENSG00000124275 ENSG00000124275 HGNC:7473 NHP2 gene NHP2 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOP10 gene NOP10 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000182117 ENSG00000182117 HGNC:14378 NT5C3A gene NT5C3A UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000122643 ENSG00000122643 HGNC:17820 PKLR gene PKLR UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000143627 ENSG00000143627 HGNC:9020 RHAG gene RHAG Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome;Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome False 1 0;0;0 0.99 False ENSG00000112077 ENSG00000112077 HGNC:10006 RPL19 gene RPL19 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000108298 ENSG00000108298 HGNC:10312 RPL26 gene RPL26 Expert list;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Diamond Blackfan anemia False 1 0;0;0 0.99 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL9 gene RPL9 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS14 gene RPS14 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3;Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3 False 1 0;0;0 0.99 False ENSG00000164587 ENSG00000164587 HGNC:10387 RPS27 gene RPS27 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS29 gene RPS29 Expert list;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Diamond Blackfan anemia False 1 0;0;0 0.99 False ENSG00000213741 ENSG00000213741 HGNC:10419 SBDS gene SBDS UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000126524 ENSG00000126524 HGNC:19440 SLC4A1 gene SLC4A1 Illumina TruGenome Clinical Sequencing Services Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic Anemia False 1 0;0;0 0.99 False ENSG00000004939 ENSG00000004939 HGNC:11027 TCN2 gene TCN2 Literature Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. PMID: 24305960;7980584;7849710;20352340;18956254 False 1 100;0;0 0.99 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000270141 ENSG00000270141 HGNC:11727 TF gene TF UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.99 False ENSG00000091513 ENSG00000091513 HGNC:11740 TINF2 gene TINF2 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000092330 ENSG00000092330 HGNC:11824 TPI1 gene TPI1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to triosephosphate isomerase deficiency False 1 0;0;0 0.99 False ENSG00000111669 ENSG00000111669 HGNC:12009