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 ABL1 gene ABL1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Chronic Myeloid Leukemia (CML) False 1 100;0;0 0.38 False ENSG00000097007 ENSG00000097007 HGNC:76 ACSL6 gene ACSL6 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome; Myelogenous leukemia, acute False 1 0;0;0 0.38 False ENSG00000164398 ENSG00000164398 HGNC:16496 ADAMTS13 gene ADAMTS13 Illumina TruGenome Clinical Sequencing Services Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Familial Thrombotic Thrombocytopenia Purpura False 1 0;0;0 0.38 False ENSG00000160323 ENSG00000160323 HGNC:1366 AK1 gene AK1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to adenylate kinase deficiency, 612631 False 1 0;0;0 0.38 False ENSG00000106992 ENSG00000106992 HGNC:361 ALDOA gene ALDOA BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Enzyme Disorder; Glycogen storage disease 7560104 False 1 100;0;0 0.38 False ENSG00000149925 ENSG00000149925 HGNC:414 AMN gene AMN Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Megaloblastic anemia-1, Norwegian type, 261100 False 1 0;0;0 0.38 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANK1 gene ANK1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RBC membrane abnormality; Spherocytosis False 1 100;0;0 0.38 False ENSG00000029534 ENSG00000029534 HGNC:492 ANKRD34A gene ANKRD34A UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000181039 ENSG00000272031 HGNC:27639 ANKRD35 gene ANKRD35 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000198483 ENSG00000198483 HGNC:26323 ARHGAP26 gene ARHGAP26 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric False 1 100;0;0 0.38 False ENSG00000145819 ENSG00000145819 HGNC:17073 ASXL1 gene ASXL1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286 False 1 100;0;0 0.38 False ENSG00000171456 ENSG00000171456 HGNC:18318 ATRX gene ATRX BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Adult False 1 100;0;0 0.38 False ENSG00000085224 ENSG00000085224 HGNC:886 BCOR gene BCOR BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000183337 ENSG00000183337 HGNC:20893 BCORL1 gene BCORL1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000085185 ENSG00000085185 HGNC:25657 BRAF gene BRAF BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Rasopathies; Leukaemia; Lymphoma; Hairy cell leukemia (HCL) False 1 100;0;0 0.38 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA1 gene BRCA1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Fanconi anemia 25472942 False 1 100;0;0 0.38 False ENSG00000012048 ENSG00000012048 HGNC:1100 C15orf41 gene C15orf41 Eligibility statement prior genetic testing;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Dyserythropoietic Anemia;N/A False 1 100;0;0 0.38 False ENSG00000186073 ENSG00000186073 HGNC:26929 CALR gene CALR BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelofibrosis; Essential thrombocythemia (ET) False 1 100;0;0 0.38 False ENSG00000179218 ENSG00000179218 HGNC:1455 CBL gene CBL BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 19620960;20008299;20543203;19074904 False 1 100;0;0 0.38 False ENSG00000110395 ENSG00000110395 HGNC:1541 CBLB gene CBLB BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000114423 ENSG00000114423 HGNC:1542 CBLC gene CBLC BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Chronic Myeloid Leukemia (CML) False 1 100;0;0 0.38 False ENSG00000142273 ENSG00000142273 HGNC:15961 CD36 gene CD36 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders [Macrothrombocytopenia] (1) False 1 0;0;0 0.38 False ENSG00000135218 ENSG00000135218 HGNC:1663 CD59 gene CD59 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 False 1 0;0;0 0.38 False ENSG00000085063 ENSG00000085063 HGNC:1689 CDKN2A gene CDKN2A BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute lymphoblastic leukemia (ALL) False 1 100;0;0 0.38 False ENSG00000147889 ENSG00000147889 HGNC:1787 CEBPA gene CEBPA Expert list Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Familial MDS (Myelodysplastic syndromes) False 1 100;0;0 0.38 False ENSG00000245848 ENSG00000245848 HGNC:1833 CSF3R gene CSF3R Expert list;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Severe congenital neutropenic;Neutrophilia, hereditary, 162830 False 1 100;0;0 0.38 False ENSG00000119535 ENSG00000119535 HGNC:2439 CUX1 gene CUX1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000257923 ENSG00000257923 HGNC:2557 CXCR4 gene CXCR4 Expert list;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders WHIM sydrome;WHIM syndrome, 193670; Myelokathexis, isolated False 1 100;0;0 0.38 False ENSG00000121966 ENSG00000121966 HGNC:2561 DHFR gene DHFR Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 False 1 0;0;0 0.38 False ENSG00000228716 ENSG00000228716 HGNC:2861 DNMT3A gene DNMT3A BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric False 1 100;0;0 0.38 False ENSG00000119772 ENSG00000119772 HGNC:2978 ENO1 gene ENO1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Enzyme Disorder; Enolase deficiency False 1 100;0;0 0.38 False ENSG00000074800 ENSG00000074800 HGNC:3350 EPB41 gene EPB41 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal RBC membrane abnormality; Elliptocytosis False 1 100;0;0 0.38 False ENSG00000159023 ENSG00000159023 HGNC:3377 EPB42 gene EPB42 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal RBC membrane abnormality; Elliptocytosis False 1 100;0;0 0.38 False ENSG00000166947 ENSG00000166947 HGNC:3381 EPHX1 gene EPHX1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;0 0.38 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC4 gene ERCC4 Literature;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Xeroderma pigmentosum, group F, 278760; XFE progeroid syndrome, 610965; Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Fanconi Anaemia False 1 50;50;0 0.38 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Bone marrow failure syndrome 2, 615715 (3) False 1 0;0;0 0.38 False ENSG00000182150 ENSG00000182150 HGNC:26922 EZH2 gene EZH2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric False 1 100;0;0 0.38 False ENSG00000106462 ENSG00000106462 HGNC:3527 FANCM gene FANCM Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group M, 614087;Fanconi anemia;Fanconi Anaemia 16116422;19423727;25078778;28837162 False 1 100;0;0 0.38 False ENSG00000187790 ENSG00000187790 HGNC:23168 FBXW7 gene FBXW7 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute lymphoblastic leukemia (ALL) False 1 100;0;0 0.38 False ENSG00000109670 ENSG00000109670 HGNC:16712 FCGR3B gene FCGR3B Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Neutropenia,alloimmuneneonatal False 1 0;0;0 0.38 False ENSG00000162747 ENSG00000162747 HGNC:3620 FLT3 gene FLT3 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 15390271 False 1 100;0;0 0.38 False ENSG00000122025 ENSG00000122025 HGNC:3765 GCLC gene GCLC Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446 False 1 100;0;0 0.38 False ENSG00000001084 ENSG00000001084 HGNC:4311 GLRX5 gene GLRX5 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 False 1 0;0;0 0.38 False ENSG00000182512 ENSG00000182512 HGNC:20134 GNAS gene GNAS BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNRHR2 gene GNRHR2 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000211451 ENSG00000211451 HGNC:16341 GPI gene GPI Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 False 1 100;0;0 0.38 False ENSG00000105220 ENSG00000105220 HGNC:4458 GPX1 gene GPX1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to glutathione peroxidase deficiency, 614164 False 1 100;0;0 0.38 False ENSG00000233276 ENSG00000233276 HGNC:4553 GSR gene GSR BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency False 1 100;0;0 0.38 False ENSG00000104687 ENSG00000104687 HGNC:4623 GSS gene GSS Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130 False 1 100;0;0 0.38 False ENSG00000100983 ENSG00000100983 HGNC:4624 HBA1 gene HBA1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders 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 False 1 100;0;0 0.38 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 False 1 100;0;0 0.38 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Radboud University Medical Center, Nijmegen Anaemias and red cell disorders 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 False 1 100;0;0 0.38 False ENSG00000244734 ENSG00000244734 HGNC:4827 HBD gene HBD Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thalassemia,delta ThalassemiaduetoHbLepore False 1 0;0;0 0.38 False ENSG00000223609 ENSG00000223609 HGNC:4829 HBG1 gene HBG1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Globin Disorder False 1 100;0;0 0.38 False ENSG00000213934 ENSG00000213934 HGNC:4831 HBG2 gene HBG2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Globin Disorder False 1 100;0;0 0.38 False ENSG00000196565 ENSG00000196565 HGNC:4832 HEPH gene HEPH UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.38 False ENSG00000089472 ENSG00000089472 HGNC:4866 HFE2 gene HFE2 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000168509 ENSG00000168509 HGNC:4887 HK1 gene HK1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285 False 1 100;0;0 0.38 False ENSG00000156515 ENSG00000156515 HGNC:4922 HOXA11 gene HOXA11 Expert list;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Congenital amegkaryocytic thrombocytopenia;Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 -3 False 1 0;0;0 0.38 False ENSG00000005073 ENSG00000005073 HGNC:5101 HRAS gene HRAS BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Adult False 1 100;0;0 0.38 False ENSG00000174775 ENSG00000174775 HGNC:5173 IDH1 gene IDH1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDH2 gene IDH2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000182054 ENSG00000182054 HGNC:5383 IFNG gene IFNG Illumina TruGenome Clinical Sequencing Services Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 1 0;0;0 0.38 False ENSG00000111537 ENSG00000111537 HGNC:5438 IKZF1 gene IKZF1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute lymphoblastic leukemia (ALL) False 1 100;0;0 0.38 False ENSG00000185811 ENSG00000185811 HGNC:13176 IRF1 gene IRF1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome, preleukemic; Myelogenous leukemia, acute; Gastric cancer, somatic, 613659; Nonsmall cell lung cancer, somatic, 211980 False 1 0;0;0 0.38 False ENSG00000125347 ENSG00000125347 HGNC:6116 ITGA10 gene ITGA10 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000143127 ENSG00000143127 HGNC:6135 ITGA2B gene ITGA2B Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BAK platelet antigen Glanzmann thrombasthenia, 273800 False 1 0;0;0 0.38 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders PL(A) platelet antigen Glanzmann thrombasthenia, 273800 False 1 0;0;0 0.38 False ENSG00000259207 ENSG00000259207 HGNC:6156 JAK2 gene JAK2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myeloproliferative neoplasms (MPN); Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000096968 ENSG00000096968 HGNC:6192 JAK3 gene JAK3 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 23832011 False 1 100;0;0 0.38 False ENSG00000105639 ENSG00000105639 HGNC:6193 KDM6A gene KDM6A BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIF23 gene KIF23 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III False 1 100;0;0 0.38 False ENSG00000137807 ENSG00000137807 HGNC:6392 KIT gene KIT BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000157404 ENSG00000157404 HGNC:6342 KMT2A gene KMT2A BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000118058 ENSG00000118058 HGNC:7132 KRAS gene KRAS BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 7949098;14699048;12176867 False 1 100;0;0 0.38 False ENSG00000133703 ENSG00000133703 HGNC:6407 LIX1L gene LIX1L UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000152022 ENSG00000271601 HGNC:28715 LPIN2 gene LPIN2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Microcytic anemia; Congenital dyserythropoietic anemia (CDA); Majeed syndrome False 1 100;0;0 0.38 False ENSG00000101577 ENSG00000101577 HGNC:14450 MTR gene MTR Radboud University Medical Center, Nijmegen Anaemias and red cell disorders 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 0.38 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Anaemias and red cell disorders 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 0.38 False ENSG00000124275 ENSG00000124275 HGNC:7473 MYD88 gene MYD88 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260; Macroglobulinemia, Waldenstrom, somatic, 153600 False 1 100;0;0 0.38 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYH9 gene MYH9 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208 False 1 0;0;0 0.38 False ENSG00000100345 ENSG00000100345 HGNC:7579 NBN gene NBN Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065;Nijmegen breakage syndrome, 251260 False 1 0;0;0 0.38 False ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 8302341;8563751;8563750 False 1 100;0;0 0.38 False ENSG00000196712 ENSG00000196712 HGNC:7765 NOTCH1 gene NOTCH1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute lymphoblastic leukemia (ALL) False 1 100;0;0 0.38 False ENSG00000148400 ENSG00000148400 HGNC:7881 NPM1 gene NPM1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000181163 ENSG00000181163 HGNC:7910 NRAS gene NRAS BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric False 1 100;0;0 0.38 False ENSG00000213281 ENSG00000213281 HGNC:7989 NT5C3A gene NT5C3A UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY False 1 100;0;0 0.38 False ENSG00000122643 ENSG00000122643 HGNC:17820 NUDT1 gene NUDT1 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000106268 ENSG00000106268 HGNC:8048 PDGFRA gene PDGFRA BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Eos leukaemia; Chronic eosinophilic leukaemia 24975316; 17555450 False 1 100;0;0 0.38 False ENSG00000134853 ENSG00000134853 HGNC:8803 PEX11B gene PEX11B UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000131779 ENSG00000131779 HGNC:8853 PFKM gene PFKM BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Enzyme Disorder; Glycogen storage disease False 1 100;0;0 0.38 False ENSG00000152556 ENSG00000152556 HGNC:8877 PHF6 gene PHF6 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000156531 ENSG00000156531 HGNC:18145 PIAS3 gene PIAS3 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000131788 ENSG00000131788 HGNC:16861 PIEZO1 gene PIEZO1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stomatocytosis; Dehydrated hereditary stomatocytosis 22529292;16898969 False 1 100;0;0 0.38 False ENSG00000103335 ENSG00000103335 HGNC:28993 PIGA gene PIGA Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Paroxysmal nocturnal hemoglobinuria, somatic, 300818 False 1 0;0;0 0.38 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGT gene PIGT Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398;?Paroxysmal nocturnal hemoglobinuria 2, 615399 False 1 0;0;0 0.38 False ENSG00000124155 ENSG00000124155 HGNC:14938 PKLR gene PKLR UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal PYRUVATE KINASE DEFICIENCY False 1 100;0;0 0.38 False ENSG00000143627 ENSG00000143627 HGNC:9020 POLR3GL gene POLR3GL UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000121851 ENSG00000121851 HGNC:28466 PRKG1 gene PRKG1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Enzyme Disorder False 1 100;0;0 0.38 False ENSG00000185532 ENSG00000185532 HGNC:9414 PTEN gene PTEN BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Adult; Myelodysplastic syndrome (MDS), Paediatric; Acute myeloid leukaemia (AML) False 1 100;0;0 0.38 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 12717436;14644997 False 1 100;0;0 0.38 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAC2 gene RAC2 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Neutrophil immunodeficiency syndrome, 608203 False 1 0;0;0 0.38 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAD21 gene RAD21 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML False 1 100;0;0 0.38 False ENSG00000164754 ENSG00000164754 HGNC:9811 RHAG gene RHAG Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome False 1 100;0;0 0.38 False ENSG00000112077 ENSG00000112077 HGNC:10006 RMRP gene RMRP BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia; Cartilage-hair hypoplasia 11207361 False 1 100;0;0 0.38 False ENSG00000269900 ENSG00000269900 HGNC:10031 RPL15 gene RPL15 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan Anaemia (DBA) 19438500;23812780 False 1 100;0;0 0.38 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL19 gene RPL19 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 12 False 1 100;0;0 0.38 False ENSG00000108298 ENSG00000108298 HGNC:10312 RPL26 gene RPL26 Expert list Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;DIAMOND-BLACKFAN ANEMIA 11 False 1 100;0;0 0.38 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia False 1 100;0;0 0.38 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL9 gene RPL9 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia False 1 100;0;0 0.38 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS14 gene RPS14 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3;Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3 False 1 100;0;0 0.38 False ENSG00000164587 ENSG00000164587 HGNC:10387 RPS27 gene RPS27 UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia False 1 100;0;0 0.38 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS29 gene RPS29 Expert list Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia False 1 100;0;0 0.38 False ENSG00000213741 ENSG00000213741 HGNC:10419 RUNX1 gene RUNX1 Expert list;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - Thrombocytopenia;Familial MDS (Myelodysplastic syndromes);Platelet Disorder, Familial, With Associated Myeloid Malignancy False 1 100;0;0 0.38 False ENSG00000159216 ENSG00000159216 HGNC:10471 SETBP1 gene SETBP1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 23832011 False 1 100;0;0 0.38 False ENSG00000152217 ENSG00000152217 HGNC:15573 SF3B1 gene SF3B1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome, somatic, 614286 False 1 100;0;0 0.38 False ENSG00000115524 ENSG00000115524 HGNC:10768 SH3BP1 gene SH3BP1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 23832011 False 1 100;0;0 0.38 False ENSG00000100092 ENSG00000100092 HGNC:10824 SLC2A1 gene SLC2A1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stomatocytosis; Pyridoxine-refractory sideroblastic anemia 21791420 False 1 100;0;0 0.38 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC34A1 gene SLC34A1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286;Fanconi renotubular syndrome 2, 613388 False 1 0;0;0 0.38 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC4A1 gene SLC4A1 Illumina TruGenome Clinical Sequencing Services Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic Anemia False 1 100;0;0 0.38 False ENSG00000004939 ENSG00000004939 HGNC:11027 SMC1A gene SMC1A BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML False 1 100;0;0 0.38 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML False 1 100;0;0 0.38 False ENSG00000108055 ENSG00000108055 HGNC:2468 SPTA1 gene SPTA1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal); Spherocytosis (BIALLELIC, autosomal or pseudoautosomal) False 1 100;0;0 0.38 False ENSG00000163554 ENSG00000163554 HGNC:11272 SPTB gene SPTB BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 100;0;0 0.38 False ENSG00000070182 ENSG00000070182 HGNC:11274 SRSF2 gene SRSF2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 22238327;22343734 False 1 100;0;0 0.38 False ENSG00000161547 ENSG00000161547 HGNC:10783 STAG2 gene STAG2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML False 1 100;0;0 0.38 False ENSG00000101972 ENSG00000101972 HGNC:11355 TAZ gene TAZ UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Barth Syndrome False 1 0;0;0 0.38 False ENSG00000102125 ENSG00000102125 HGNC:11577 TERC gene TERC Eligibility statement prior genetic testing;Expert list;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 False 1 100;0;0 0.38 False ENSG00000270141 ENSG00000270141 HGNC:11727 TET2 gene TET2 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome, somatic, 614286 False 1 100;0;0 0.38 False ENSG00000168769 ENSG00000168769 HGNC:25941 TF gene TF UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.38 False ENSG00000091513 ENSG00000091513 HGNC:11740 TP53 gene TP53 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 24761810 False 1 100;0;0 0.38 False ENSG00000141510 ENSG00000141510 HGNC:11998 TPI1 gene TPI1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to triosephosphate isomerase deficiency False 1 100;0;0 0.38 False ENSG00000111669 ENSG00000111669 HGNC:12009 TUBB1 gene TUBB1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 False 1 0;0;0 0.38 False ENSG00000101162 ENSG00000101162 HGNC:16257 TXNIP gene TXNIP UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.38 False ENSG00000117289 ENSG00000265972 HGNC:16952 U2AF1 gene U2AF1 Expert Review Red Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Myelodysplastic syndrome (MDS) False 1 100;0;0 0.38 False ENSG00000160201 ENSG00000160201 HGNC:12453 UBE2T gene UBE2T BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia 26046368 False 1 100;0;0 0.38 False ENSG00000077152 ENSG00000077152 HGNC:25009 USB1 gene USB1 Expert list Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Dyskeratosis congenita False 1 100;0;0 0.38 False ENSG00000103005 ENSG00000103005 HGNC:25792 VPS45 gene VPS45 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Neutropenia,severecongenital,5,autosomalrecessive,615285 False 1 100;0;0 0.38 False ENSG00000136631 ENSG00000136631 HGNC:14579 WIPF1 gene WIPF1 Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Wiskott-Aldrich syndrome 2, 614493 False 1 0;0;0 0.38 False ENSG00000115935 ENSG00000115935 HGNC:12736 WT1 gene WT1 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) 20368469; 27252512 False 1 100;0;0 0.38 False ENSG00000184937 ENSG00000184937 HGNC:12796 ZRSR2 gene ZRSR2 BRIDGE consortium (NIHRBR-RD) Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Chronic Myeloid Leukemia (CML) False 1 100;0;0 0.38 False ENSG00000169249 ENSG00000169249 HGNC:23019