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 ACSL6 gene ACSL6 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome; Myelogenous leukemia, acute False 1 0;0;0 0.260 False ENSG00000164398 ENSG00000164398 HGNC:16496 ADAMTS13 gene ADAMTS13 Illumina TruGenome Clinical Sequencing Services Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Familial Thrombotic Thrombocytopenia Purpura False 1 0;0;0 0.260 False ENSG00000160323 ENSG00000160323 HGNC:1366 ALAS2 gene ALAS2 Eligibility statement prior genetic testing;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females Sideroblastic anaemia ;ANEMIA, HEREDITARYSIDEROBLASTIC X-linked False 1 0;0;0 0.260 False ENSG00000158578 ENSG00000158578 HGNC:397 ANKRD34A gene ANKRD34A UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000181039 ENSG00000272031 HGNC:27639 ANKRD35 gene ANKRD35 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000198483 ENSG00000198483 HGNC:26323 ASXL1 gene ASXL1 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Bohring-Opitz syndrome, 605039; Myelodysplastic syndrome, somatic, 614286 False 1 0;0;0 0.260 False ENSG00000171456 ENSG00000171456 HGNC:18318 C15orf41 gene C15orf41 Eligibility statement prior genetic testing;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Dyserythropoietic Anemia;N/A False 1 0;0;0 0.260 False ENSG00000186073 ENSG00000186073 HGNC:26929 CD36 gene CD36 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders [Macrothrombocytopenia] (1) False 1 0;0;0 0.260 False ENSG00000135218 ENSG00000135218 HGNC:1663 CDAN1 gene CDAN1 Eligibility statement prior genetic testing;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Dyserythropoietic Anemia;ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I False 1 0;0;0 0.260 False ENSG00000140326 ENSG00000140326 HGNC:1713 CEBPA gene CEBPA Expert list Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Familial MDS (Myelodysplastic syndromes) False 1 0;0;0 0.260 False ENSG00000245848 ENSG00000245848 HGNC:1833 CSF3R gene CSF3R Expert list;Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Severe congenital neutropenic;Neutrophilia, hereditary, 162830 False 1 0;0;0 0.260 False ENSG00000119535 ENSG00000119535 HGNC:2439 CXCR4 gene CXCR4 Expert list;Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders WHIM sydrome;WHIM syndrome, 193670; Myelokathexis, isolated False 1 0;0;0 0.260 False ENSG00000121966 ENSG00000121966 HGNC:2561 FANCM gene FANCM Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Early onset pancytopenia 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 False 1 0;0;0 0.260 False ENSG00000187790 ENSG00000187790 HGNC:23168 FCGR3B gene FCGR3B Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Neutropenia,alloimmuneneonatal False 1 0;0;0 0.260 False ENSG00000162747 ENSG00000162747 HGNC:3620 G6PD gene G6PD UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females Hemolytic anemia due to G6PD deficiency False 1 0;0;0 0.260 False ENSG00000160211 ENSG00000160211 HGNC:4057 GNRHR2 gene GNRHR2 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000211451 ENSG00000211451 HGNC:16341 HFE2 gene HFE2 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000168509 ENSG00000168509 HGNC:4887 HOXA11 gene HOXA11 Expert list;Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 -3;Congenital amegkaryocytic thrombocytopenia False 1 0;0;0 0.260 False ENSG00000005073 ENSG00000005073 HGNC:5101 IRF1 gene IRF1 Radboud University Medical Center, Nijmegen Early onset pancytopenia 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 0.260 False ENSG00000125347 ENSG00000125347 HGNC:6116 ITGA10 gene ITGA10 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000143127 ENSG00000143127 HGNC:6135 ITGA2B gene ITGA2B Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BAK platelet antigen Glanzmann thrombasthenia, 273800 False 1 0;0;0 0.260 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders PL(A) platelet antigen Glanzmann thrombasthenia, 273800 False 1 0;0;0 0.260 False ENSG00000259207 ENSG00000259207 HGNC:6156 KIF23 gene KIF23 UKGTN Early onset pancytopenia 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 0;0;0 0.260 False ENSG00000137807 ENSG00000137807 HGNC:6392 KLF1 gene KLF1 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anemia, dyserythropoietic congenital, type IV False 1 0;0;0 0.260 False ENSG00000105610 ENSG00000105610 HGNC:6345 LIX1L gene LIX1L UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000152022 ENSG00000271601 HGNC:28715 MYD88 gene MYD88 Radboud University Medical Center, Nijmegen Early onset pancytopenia 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 0;0;0 0.260 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYH9 gene MYH9 Radboud University Medical Center, Nijmegen Early onset pancytopenia 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 0.260 False ENSG00000100345 ENSG00000100345 HGNC:7579 NT5C3A gene NT5C3A UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY False 1 0;0;0 0.260 False ENSG00000122643 ENSG00000122643 HGNC:17820 NUDT1 gene NUDT1 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000106268 ENSG00000106268 HGNC:8048 PEX11B gene PEX11B UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000131779 ENSG00000131779 HGNC:8853 PIAS3 gene PIAS3 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000131788 ENSG00000131788 HGNC:16861 PKLR gene PKLR UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal PYRUVATE KINASE DEFICIENCY False 1 0;0;0 0.260 False ENSG00000143627 ENSG00000143627 HGNC:9020 POLR3GL gene POLR3GL UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Unknown Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000121851 ENSG00000121851 HGNC:28466 RAC2 gene RAC2 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Neutrophil immunodeficiency syndrome, 608203 False 1 0;0;0 0.260 False ENSG00000128340 ENSG00000128340 HGNC:9802 RPL19 gene RPL19 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 12 False 1 0;0;0 0.260 False ENSG00000108298 ENSG00000108298 HGNC:10312 RPL26 gene RPL26 Expert list;UKGTN Early onset pancytopenia 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 0;0;0 0.260 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia False 1 0;0;0 0.260 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL9 gene RPL9 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia False 1 0;0;0 0.260 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS14 gene RPS14 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3 False 1 0;0;0 0.260 False ENSG00000164587 ENSG00000164587 HGNC:10387 RPS27 gene RPS27 UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia False 1 0;0;0 0.260 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS29 gene RPS29 Expert list;UKGTN Early onset pancytopenia 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 0;0;0 0.260 False ENSG00000213741 ENSG00000213741 HGNC:10419 RUNX1 gene RUNX1 Expert list;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial MDS (Myelodysplastic syndromes);Platelet Disorder, Familial, With Associated Myeloid Malignancy False 1 0;0;0 0.260 False ENSG00000159216 ENSG00000159216 HGNC:10471 SEC23B gene SEC23B UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II False 1 0;0;0 0.260 False ENSG00000101310 ENSG00000101310 HGNC:10702 SF3B1 gene SF3B1 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome, somatic, 614286 False 1 0;0;0 0.260 False ENSG00000115524 ENSG00000115524 HGNC:10768 SLC25A38 gene SLC25A38 Eligibility statement prior genetic testing;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anaemia ;ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE False 1 0;0;0 0.260 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC34A1 gene SLC34A1 Radboud University Medical Center, Nijmegen Early onset pancytopenia 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 0.260 False ENSG00000131183 ENSG00000131183 HGNC:11019 SRP72 gene SRP72 Expert list;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial False 1 0;0;0 0.260 False ENSG00000174780 ENSG00000174780 HGNC:11303 TAZ gene TAZ UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Barth Syndrome False 1 0;0;0 0.260 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCN2 gene TCN2 Literature Early onset pancytopenia and red cell disorders 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 0.260 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC Expert list;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 False 1 0;0;0 0.260 False ENSG00000270141 ENSG00000270141 HGNC:11727 TET2 gene TET2 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Myelodysplastic syndrome, somatic, 614286 False 1 0;0;0 0.260 False ENSG00000168769 ENSG00000168769 HGNC:25941 TUBB1 gene TUBB1 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 False 1 0;0;0 0.260 False ENSG00000101162 ENSG00000101162 HGNC:16257 TXNIP gene TXNIP UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 0.260 False ENSG00000117289 ENSG00000265972 HGNC:16952 USB1 gene USB1 Expert list Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Dyskeratosis congenita False 1 0;0;0 0.260 False ENSG00000103005 ENSG00000103005 HGNC:25792 VPS45 gene VPS45 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Neutropenia,severecongenital,5,autosomalrecessive,615285 False 1 0;0;0 0.260 False ENSG00000136631 ENSG00000136631 HGNC:14579 WIPF1 gene WIPF1 Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Wiskott-Aldrich syndrome 2, 614493 False 1 0;0;0 0.260 False ENSG00000115935 ENSG00000115935 HGNC:12736