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);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Chronic Myeloid Leukemia (CML) False 1 100;0;0 1.124 False ENSG00000097007 ENSG00000097007 HGNC:76 ACSL6 gene ACSL6 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome; Myelogenous leukemia, acute False 1 0;0;100 1.124 False ENSG00000164398 ENSG00000164398 HGNC:16496 ANKRD26 gene ANKRD26 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 2, 188000;Congenital amegkaryocytic thrombocytopenia 21211618 False 1 0;100;0 1.124 False ENSG00000107890 ENSG00000107890 HGNC:29186 ANKRD34A gene ANKRD34A Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000181039 ENSG00000272031 HGNC:27639 ANKRD35 gene ANKRD35 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000198483 ENSG00000198483 HGNC:26323 ARHGAP26 gene ARHGAP26 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown "Myelodysplastic syndrome (MDS), Paediatric;Leukemia, juvenile myelomonocytic, somatic 607785" False 1 100;0;0 1.124 False ENSG00000145819 ENSG00000145819 HGNC:17073 ASXL1 gene ASXL1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Bohring-Opitz syndrome, 605039;Myelodysplastic syndrome, somatic, 614286;juvenile myelomonocytic leukaemia;aquired aplastic anaemia 20408841;24255920;28107566 False 1 100;0;0 1.124 False ENSG00000171456 ENSG00000171456 HGNC:18318 BAAT gene BAAT Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial, 607748;Hypercholanemia False 1 0;0;100 1.124 False ENSG00000136881 ENSG00000136881 HGNC:932 BCOR gene BCOR BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML);aquired aplastic anaemia 28107566 False 1 100;0;0 1.124 False ENSG00000183337 ENSG00000183337 HGNC:20893 BCORL1 gene BCORL1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML);aquired aplastic anaemia False 1 100;0;0 1.124 False ENSG00000085185 ENSG00000085185 HGNC:25657 BRAF gene BRAF BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Rasopathies; Leukaemia; Lymphoma; Hairy cell leukemia (HCL) False 1 100;0;0 1.124 False ENSG00000157764 ENSG00000157764 HGNC:1097 CALR gene CALR BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelofibrosis;Essential thrombocythemia (ET);Myelofibrosis, somatic, 254450;Thrombocythemia, somatic,187950 24325356;24325359 False 1 50;0;50 1.124 False ENSG00000179218 ENSG00000179218 HGNC:1455 CBLB gene CBLB BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specifiy in evaluation comments Acute myeloid leukaemia (AML) False 1 100;0;0 1.124 False ENSG00000114423 ENSG00000114423 HGNC:1542 CBLC gene CBLC BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specifiy in evaluation comments Chronic Myeloid Leukemia (CML) False 1 100;0;0 1.124 False ENSG00000142273 ENSG00000142273 HGNC:15961 CD36 gene CD36 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal [Macrothrombocytopenia] (1) False 1 0;0;100 1.124 False ENSG00000135218 ENSG00000135218 HGNC:1663 CDKN2A gene CDKN2A BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specifiy in evaluation comments Acute lymphoblastic leukemia (ALL) 27960642;27756164 False 1 100;0;0 1.124 False ENSG00000147889 ENSG00000147889 HGNC:1787 CUX1 gene CUX1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000257923 ENSG00000257923 HGNC:2557 CYCS gene CYCS Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 4, OMIM:612004 18345000;24326104 False 1 0;100;0 1.124 False ENSG00000172115 ENSG00000172115 HGNC:19986 DNMT3A gene DNMT3A BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric;acute myeloid leukaemia;aquired aplastic anaemia False 1 100;0;0 1.124 False ENSG00000119772 ENSG00000119772 HGNC:2978 ENO1 gene ENO1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Enzyme Disorder; Enolase deficiency False 1 100;0;0 1.124 False ENSG00000074800 ENSG00000074800 HGNC:3350 EPHX1 gene EPHX1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;100 1.124 False ENSG00000143819 ENSG00000143819 HGNC:3401 EPO gene EPO Expert Review Red;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal DBA;Diamond-Blackfan anemia-like (AR), 617911;Erythrocytosis, familial 5 (AD), 617907 20655265;29514032;28283061 False 1 0;0;100 1.124 False ENSG00000130427 ENSG00000130427 HGNC:3415 EZH2 gene EZH2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Paediatric False 1 50;0;50 1.124 False ENSG00000106462 ENSG00000106462 HGNC:3527 FANCM gene FANCM Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group M, 614087 16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene; 19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA; 25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia. False 1 50;0;50 1.124 False ENSG00000187790 ENSG00000187790 HGNC:23168 FBXW7 gene FBXW7 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute lymphoblastic leukemia (ALL) False 1 100;0;0 1.124 False Other - please provide details in the comments ENSG00000109670 ENSG00000109670 HGNC:16712 FCGR3B gene FCGR3B Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specify in evaluation comments Neutropenia,alloimmuneneonatal False 1 0;0;100 1.124 False ENSG00000162747 ENSG00000162747 HGNC:3620 GNAS gene GNAS BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNRHR2 gene GNRHR2 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000211451 ENSG00000211451 HGNC:16341 GPX1 gene GPX1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Hemolytic anemia due to glutathione peroxidase deficiency, 614164 False 1 50;0;50 1.124 False ENSG00000233276 ENSG00000233276 HGNC:4553 GSR gene GSR BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency 8533822 False 1 50;0;50 1.124 False ENSG00000104687 ENSG00000104687 HGNC:4623 HBG1 gene HBG1 BRIDGE consortium (NIHRBR-RD);Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fetal hemoglobin quantitative trait locus 1, OMIM:141749;Hereditary persistance of fetal haemoglobin;Globin Disorder False 1 50;0;50 1.124 False ENSG00000213934 ENSG00000213934 HGNC:4831 HBG2 gene HBG2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fetal hemoglobin quantitative trait locus 1, OMIM:141749;Cyanosis, transient neonatal, OMIM:613977;Globin Disorder False 1 100;0;0 1.124 False ENSG00000196565 ENSG00000196565 HGNC:4832 HEPH gene HEPH Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;100 1.124 False ENSG00000089472 ENSG00000089472 HGNC:4866 HFE2 gene HFE2 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000168509 ENSG00000168509 HGNC:4887 HRAS gene HRAS BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Adult False 1 50;0;50 1.124 False ENSG00000174775 ENSG00000174775 HGNC:5173 IDH1 gene IDH1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDH2 gene IDH2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000182054 ENSG00000182054 HGNC:5383 IFNG gene IFNG Expert Review Red;Illumina TruGenome Clinical Sequencing Services Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Aplastic Anemia 15327519 False 1 0;0;100 1.124 False ENSG00000111537 ENSG00000111537 HGNC:5438 IRF1 gene IRF1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome, preleukemic; Myelogenous leukemia, acute; Gastric cancer, somatic, 613659; Nonsmall cell lung cancer, somatic, 211980 False 1 0;0;100 1.124 False ENSG00000125347 ENSG00000125347 HGNC:6116 ITGA10 gene ITGA10 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000143127 ENSG00000143127 HGNC:6135 ITGA2B gene ITGA2B Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BAK platelet antigen Glanzmann thrombasthenia, 273800 False 1 0;0;100 1.124 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specify in evaluation comments PL(A) platelet antigen Glanzmann thrombasthenia, 273800 False 1 0;0;0 1.124 False ENSG00000259207 ENSG00000259207 HGNC:6156 JAK2 gene JAK2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specify in evaluation comments Myeloproliferative neoplasms (MPN); Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000096968 ENSG00000096968 HGNC:6192 JAK3 gene JAK3 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 23832011 False 1 50;0;50 1.124 False ENSG00000105639 ENSG00000105639 HGNC:6193 KDM6A gene KDM6A BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIT gene KIT BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukemia, acute myeloid, somatic, OMIM:601626 False 1 50;0;50 1.124 False ENSG00000157404 ENSG00000157404 HGNC:6342 KMT2A gene KMT2A BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000118058 ENSG00000118058 HGNC:7132 KRAS gene KRAS BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Paediatric 7949098;14699048;12176867 False 1 50;0;50 1.124 False ENSG00000133703 ENSG00000133703 HGNC:6407 LIX1L gene LIX1L Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000152022 ENSG00000271601 HGNC:28715 MASTL gene MASTL Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia;severe aplastic anemia 12890928;21211618;26136524 False 1 0;0;100 1.124 False ENSG00000120539 ENSG00000120539 HGNC:19042 MPIG6B gene MPIG6B Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "?Thrombocytopenia, anemia, and myelofibrosis 617441" 27743390 False 1 0;0;100 1.124 False ENSG00000204420 ENSG00000204420 HGNC:13937 MYD88 gene MYD88 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260; Macroglobulinemia, Waldenstrom, somatic, 153600 False 1 50;0;50 1.124 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYH9 gene MYH9 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208 False 1 0;0;100 1.124 False ENSG00000100345 ENSG00000100345 HGNC:7579 NF1 gene NF1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Paediatric;162200 8302341;8563751;8563750 False 1 50;0;50 1.124 False ENSG00000196712 ENSG00000196712 HGNC:7765 NOP10 gene NOP10 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Dyskeratosis congenita, autosomal recessive 1 224230" 17507419 False 1 100;0;0 1.124 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOTCH1 gene NOTCH1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute lymphoblastic leukemia (ALL) 21562564;21642962 False 1 50;0;50 1.124 False ENSG00000148400 ENSG00000148400 HGNC:7881 NRAS gene NRAS BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Paediatric False 1 50;0;50 1.124 False ENSG00000213281 ENSG00000213281 HGNC:7989 NUDT1 gene NUDT1 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000106268 ENSG00000106268 HGNC:8048 PDGFRA gene PDGFRA BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Hypereosinophilic syndrome, idiopathic, resistant to imatinib, OMIM:607685 24975316;17555450;12660384 False 1 100;0;0 1.124 False ENSG00000134853 ENSG00000134853 HGNC:8803 PEX11B gene PEX11B Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000131779 ENSG00000131779 HGNC:8853 PHF6 gene PHF6 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown T-cell acute lymphoblastic leukemia 20228800 False 1 100;0;0 1.124 False ENSG00000156531 ENSG00000156531 HGNC:18145 PIAS3 gene PIAS3 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000131788 ENSG00000131788 HGNC:16861 PIGA gene PIGA Eligibility statement prior genetic testing;Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Paroxysmal nocturnal hemoglobinuria, somatic, 300818 False 1 0;0;100 1.124 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGT gene PIGT Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398;?Paroxysmal nocturnal hemoglobinuria 2, 615399 23733340 False 1 0;0;100 1.124 False ENSG00000124155 ENSG00000124155 HGNC:14938 POLR2C gene POLR2C Expert Review Red;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thrombocytopenia, MONDO:0002049 34794894;29367954 False 1 0;100;0 1.124 False ENSG00000102978 ENSG00000102978 HGNC:9189 POLR3GL gene POLR3GL Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;100 1.124 False ENSG00000121851 ENSG00000121851 HGNC:28466 PRKG1 gene PRKG1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Enzyme Disorder False 1 100;0;0 1.124 False ENSG00000185532 ENSG00000185532 HGNC:9414 PTEN gene PTEN BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Adult; Myelodysplastic syndrome (MDS), Paediatric; Acute myeloid leukaemia (AML) False 1 50;0;50 1.124 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1 151100;Metachondromatosis 156250;Noonan syndrome 1 163950;Myelodysplastic syndrome (MDS), Paediatric 12717436;14644997 False 1 100;0;0 1.124 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAC2 gene RAC2 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Neutrophil immunodeficiency syndrome, 608203 False 1 0;0;100 1.124 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAD21 gene RAD21 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML 25006131;24904756 False 1 100;0;0 1.124 False ENSG00000164754 ENSG00000164754 HGNC:9811 RBM8A gene RBM8A Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specifiy in evaluation comments Thrombocytopenia Absent-Radius Syndrome 274000 22366785 False 1 0;100;0 1.124 False ENSG00000131795 ENSG00000265241 HGNC:9905 RPL13 gene RPL13 Expert list;Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Diamond-Blackfan anaemia 25424902 False 1 0;0;0 1.124 True Other - please provide details in the comments ENSG00000167526 ENSG00000167526 HGNC:10303 RPL15 gene RPL15 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "?Diamond-Blackfan anemia 12 615550" 19438500;23812780 False 1 50;0;50 1.124 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL18 gene RPL18 Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 28280134 False 1 0;0;100 1.124 False ENSG00000063177 ENSG00000063177 HGNC:10310 RPL19 gene RPL19 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Diamond-Blackfan anemia 23718193 False 1 100;0;0 1.124 False ENSG00000108298 ENSG00000108298 HGNC:10312 RPL26 gene RPL26 Expert list;Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "?Diamond-Blackfan anemia 11 614900" False 1 50;0;50 1.124 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Diamond-Blackfan anemia;?Diamond-Blackfan anemia 16, 617408 25424902 False 1 100;0;0 1.124 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Expert list;Expert Review Red;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown 25042156;25424902 False 1 0;0;0 1.124 False Other - please provide details in the comments ENSG00000071082 ENSG00000071082 HGNC:10334 RPL35 gene RPL35 Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 28280134 False 1 0;0;100 1.124 False ENSG00000136942 ENSG00000136942 HGNC:10344 RPL9 gene RPL9 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 23718193;20116044 False 1 100;0;0 1.124 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS14 gene RPS14 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias 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 50;0;50 1.124 False ENSG00000164587 ENSG00000164587 HGNC:10387 RPS27 gene RPS27 Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 17, OMIM:617409 23718193;25424902 False 1 100;0;0 1.124 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS28 gene RPS28 Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 20301769;24942156 False 1 0;0;100 1.124 False ENSG00000233927 ENSG00000233927 HGNC:10418 RUNX1 gene RUNX1 Expert list;Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited Bone Marrow Failure Syndromes - Thrombocytopenia;Familial MDS (Myelodysplastic syndromes);Platelet Disorder, Familial, With Associated Myeloid Malignancy 18173751;21606161;18478040 False 1 100;0;0 1.124 False ENSG00000159216 ENSG00000159216 HGNC:10471 SETBP1 gene SETBP1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Paediatric 23832011 False 1 50;0;50 1.124 False ENSG00000152217 ENSG00000152217 HGNC:15573 SF3B1 gene SF3B1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specify in evaluation comments Myelodysplastic syndrome, somatic, 614286 False 1 50;0;50 1.124 False ENSG00000115524 ENSG00000115524 HGNC:10768 SH3BP1 gene SH3BP1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 23832011 False 1 50;0;50 1.124 False ENSG00000100092 ENSG00000100092 HGNC:10824 SLC34A1 gene SLC34A1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286;Fanconi renotubular syndrome 2, 613388 False 1 0;0;100 1.124 False ENSG00000131183 ENSG00000131183 HGNC:11019 SMC1A gene SMC1A BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute Promyelocytic Leukemia;Acute myeloid leukaemia (AML);Especially in Down syndrome AML 24856830;26886259 False 1 100;0;0 1.124 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML 22817890;25006131;28152414, 22237025;27470916 False 1 100;0;0 1.124 False ENSG00000108055 ENSG00000108055 HGNC:2468 SRP72 gene SRP72 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial False 1 100;0;0 1.124 False ENSG00000174780 ENSG00000174780 HGNC:11303 SRSF2 gene SRSF2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Myelodysplastic syndrome (MDS), Paediatric 22238327;22343734;22389253 False 1 50;0;50 1.124 False ENSG00000161547 ENSG00000161547 HGNC:10783 STAG2 gene STAG2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Especially in Down syndrome AML 28152414;25006131;26492932;25550361 False 1 100;0;0 1.124 False ENSG00000101972 ENSG00000101972 HGNC:11355 TET2 gene TET2 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Other - please specify in evaluation comments Myelodysplastic syndrome, somatic, 614286 False 1 50;0;50 1.124 False ENSG00000168769 ENSG00000168769 HGNC:25941 TP53 gene TP53 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelodysplastic syndrome (MDS), Paediatric 24761810 False 1 50;0;50 1.124 False ENSG00000141510 ENSG00000141510 HGNC:11998 TSR2 gene TSR2 Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 20301769;24942156 False 1 0;0;100 1.124 False ENSG00000158526 ENSG00000158526 HGNC:25455 TUBB1 gene TUBB1 Expert Review Red;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 False 1 0;0;100 1.124 False ENSG00000101162 ENSG00000101162 HGNC:16257 TXNIP gene TXNIP Expert Review Red;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 1 0;0;0 1.124 False ENSG00000117289 ENSG00000265972 HGNC:16952 U2AF1 gene U2AF1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Myelodysplastic syndrome (MDS) 22158538;21909114;23029227;22389253 False 1 100;0;0 1.124 False ENSG00000160201 ENSG00000160201 HGNC:12453 USB1 gene USB1 Expert list;Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders "Poikiloderma with neutropenia 604173;Dyskeratosis congenita" False 1 100;0;0 1.124 False ENSG00000103005 ENSG00000103005 HGNC:25792 USP18 gene USP18 Expert Review Red;Other Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 (includes Thrombocytopenia) 27325888;12833411 False 1 0;0;0 1.124 False ENSG00000184979 ENSG00000184979 HGNC:12616 WT1 gene WT1 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML) 20368469;27252512;8630376 False 1 100;0;0 1.124 False ENSG00000184937 ENSG00000184937 HGNC:12796 ZRSR2 gene ZRSR2 BRIDGE consortium (NIHRBR-RD);Expert Review Red Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders Unknown Acute myeloid leukaemia (AML); Chronic Myeloid Leukemia (CML) 25550361;27543316;22389253 False 1 100;0;0 1.124 False ENSG00000169249 ENSG00000169249 HGNC:23019