Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCB7 gene ABCB7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Anemia, sideroblastic, with ataxia, OMIM:301310 20408841;24255920;10196363;11050011;22398176;11843825 False 3 100;0;0 1.124 False Other - please provide details in the comments ENSG00000131269 ENSG00000131269 HGNC:48 ADA2 gene ADA2 Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688;Sneddon syndrome, OMIM:182410;Diamond-Blackfan Anemia http://www.bloodjournal.org/content/130/Suppl_1/874;29681619;30503522 False 3 50;0;50 1.124 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTS13 gene ADAMTS13 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 11586351 False 3 0;0;0 1.124 False ENSG00000160323 ENSG00000160323 HGNC:1366 AK1 gene AK1 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to adenylate kinase deficiency, 612631 False 3 0;0;0 1.124 False ENSG00000106992 ENSG00000106992 HGNC:361 ALAS2 gene ALAS2 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1, OMIM:300751 10029606 False 3 100;0;0 1.124 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDOA gene ALDOA BRIDGE consortium (NIHRBR-RD);Expert Review Green;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 Enzyme Disorder;Glycogen storage disease;Glycogen storage disease XII, 611881;Aldolase A deficiency;Glycogen storage disease due to aldolase A deficiency 2825199;14615364;8598869 False 3 100;0;0 1.124 False ENSG00000149925 ENSG00000149925 HGNC:414 AMN gene AMN Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, 261100 15024727 False 3 100;0;0 1.124 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANK1 gene ANK1 BRIDGE consortium (NIHRBR-RD);Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal RBC membrane abnormality;Spherocytosis, type 1,182900 1832935;17327413;8640229 False 3 100;0;0 1.124 False ENSG00000029534 ENSG00000029534 HGNC:492 BRCA2 gene BRCA2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 11239453;12065746;14670928;28185119;24395671 False 3 100;0;0 1.124 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 14630800;16116424;16153896;16116423 False 3 100;0;0 1.124 False ENSG00000136492 ENSG00000136492 HGNC:20473 C15orf41 gene C15orf41 Eligibility statement prior genetic testing;Expert Review Green;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ib, OMIM:615631;Congenital dyserythropoietic anemia type type 1B, MONDO:0014285 23716552;16643452;9220189 False 3 100;0;0 1.124 False Other - please provide details in the comments ENSG00000186073 ENSG00000186073 HGNC:26929 CD59 gene CD59 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 24382084;23149847;1382994 False 3 0;0;0 1.124 False ENSG00000085063 ENSG00000085063 HGNC:1689 CDAN1 gene CDAN1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, OMIM:224120;Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 12434312;32518175 False 3 100;0;0 1.124 False ENSG00000140326 ENSG00000140326 HGNC:1713 CSF3R gene CSF3R Expert list;Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia;Neutropenia, severe congenital, 7, autosomal recessive 617014 9001427;26324699;24753537 False 3 100;0;0 1.124 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita 22532422;22899577 False 3 100;0;0 1.124 False ENSG00000178971 ENSG00000178971 HGNC:26169 CUBN gene CUBN Expert Review Green;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 Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia 15024727 False 3 100;0;0 1.124 False ENSG00000107611 ENSG00000107611 HGNC:2548 CXCR4 gene CXCR4 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, 193670;Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;Severe congenital neutropenia 12692554;15536153 False 3 100;0;0 1.124 False ENSG00000121966 ENSG00000121966 HGNC:2561 DHFR gene DHFR Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 21310277 False 3 100;0;0 1.124 False ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000 9590285;9590276;10217077;10583221 False 3 100;0;0 1.124 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert Review Green;Other Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Pancytopaenia;Bone Marrow Failure;Bone marrow failure syndrome 3, 617052 27346687;28062395;29700810 False 3 0;0;100 1.124 False ENSG00000168724 ENSG00000168724 HGNC:27030 ELANE gene ELANE Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutropenia, cyclic 162800;Neutropenia, severe congenital 1, autosomal dominant 202700 10581030;11675333 False 3 100;0;0 1.124 False ENSG00000197561 ENSG00000197561 HGNC:3309 EPB41 gene EPB41 BRIDGE consortium (NIHRBR-RD);Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RBC membrane abnormality;Elliptocytosis;Elliptocytosis-1,611804;Hereditary elliptocytosis 3755799;3134067;1430200 False 3 100;0;0 1.124 False ENSG00000159023 ENSG00000159023 HGNC:3377 EPB42 gene EPB42 BRIDGE consortium (NIHRBR-RD);Expert Review Green;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 RBC membrane abnormality;Elliptocytosis;Spherocytosis, type 5, 612690;Hereditary spherocytosis type 5;Minkowski-Chauffard disease;Spherocytosis, Recessive;EPB42-related hereditary spherocytosis 15071790;1558976;7803799;2386772;7772513 False 3 100;0;0 1.124 False ENSG00000166947 ENSG00000166947 HGNC:3381 ERCC4 gene ERCC4 Expert Review Green;Literature;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272 23623386;24027083;23623389 False 3 75;25;0 1.124 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, 615715 24507776;27185855 False 3 50;50;0 1.124 False ENSG00000182150 ENSG00000182150 HGNC:26922 FANCA gene FANCA Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650;Fanconi anemia 8896563 False 3 100;0;0 1.124 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia False 3 100;0;0 1.124 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list;Expert Review Green;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 C, 227645 1574115 False 3 100;0;0 1.124 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;Expert Review Green;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 D2, 227646 11239454 False 3 100;0;0 1.124 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;Expert Review Green;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 E, 600901 7662964;9382107;9147877;10205272 False 3 100;0;0 1.124 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list;Expert Review Green;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 F, 603467 10615118 False 3 100;0;0 1.124 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;Expert Review Green;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 G, 614082 9806548 False 3 100;0;0 1.124 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list;Expert Review Green;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 I, 609053 11239453;17452773 False 3 100;0;0 1.124 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;Expert Review Green;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 L, 614083 12973351;19405097;12724401;25754594;16474160 False 3 100;0;0 1.124 False ENSG00000115392 ENSG00000115392 HGNC:20748 G6PC3 gene G6PC3 Expert list;Expert Review Green;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 Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 4 Autosomal Dominant;Neutropenia, severe congenital 4, autosomal recessive, 612541;Dursun syndrome, 612541;Severe Congenital Neutropenia 19118303 False 3 100;0;0 1.124 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hemolytic anemia due to G6PD deficiency, 300908;Enzyme Disorder 1999409 False 3 100;0;0 1.124 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA1 gene GATA1 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myelodysplastic syndrome (MDS), Paediatric;Diamond Blackfan Anaemia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 22706301;10700180;24766296;24952648;24453067 False 3 100;0;0 1.124 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert list;Expert Review Green;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 - GATA2 deficiencies;Familial MDS (Myelodysplastic syndromes);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172;Emberger syndrome, 614038 (includes pancytopenia);{Myelodysplastic syndrome, susceptibility to}, 614286;{Leukemia, acute myeloid, susceptibility to}, 601626;Primary Lymphedema with Myelodysplasia;Immunodeficiency 21;Leukemia, Acute Myeloid;Lymphedema, Primary, With Myelodysplasia;Myelodysplastic Syndrome;Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency;Congenital dyserythropoietic anemia (CDA) 21892162;27418648 False 3 100;0;0 1.124 False ENSG00000179348 ENSG00000179348 HGNC:4171 GCLC gene GCLC Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Enzyme Disorder;Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency 10515893;10733484;12663448;18024385;8634459 False 3 67;0;33 1.124 False ENSG00000001084 ENSG00000001084 HGNC:4311 GFI1 gene GFI1 Expert list;Expert Review Green;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 - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107 12778173;19775295;11810106;12530980 False 3 100;0;0 1.124 False ENSG00000162676 ENSG00000162676 HGNC:4237 GLRX5 gene GLRX5 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 17485548;20364084;25342667 False 3 0;0;0 1.124 False ENSG00000182512 ENSG00000182512 HGNC:20134 GSS gene GSS Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130 10450861;16435214;8896573;11167850 False 3 100;0;0 1.124 False ENSG00000100983 ENSG00000100983 HGNC:4624 HAX1 gene HAX1 Expert list;Expert Review Green;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 Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 3 Autosomal Dominant;Neutropenia, severe congenital 3, autosomal recessive, 610738 18337561;17187068;10581030;18024606 False 3 100;0;0 1.124 False ENSG00000143575 ENSG00000143575 HGNC:16915 HBA1 gene HBA1 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocytosis 7, OMIM:617981;Heinz body anemias, alpha-, OMIM:140700;Hemoglobin H disease, nondeletional, OMIM:613978;Methemoglobinemia, alpha type, OMIM:617973;Thalassemias, alpha-, OMIM:604131 False 3 100;0;0 1.124 False Other - please provide details in the comments ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocytosis 7, OMIM:617981;Heinz body anemia, OMIM:140700;Hemoglobin H disease, deletional and nondeletional, OMIM:613978;Thalassemia, alpha-, OMIM:604131 False 3 100;0;0 1.124 False Other - please provide details in the comments ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Delta-beta thalassemia, OMIM:141749;Heinz body anemia, OMIM:140700;Hereditary persistence of fetal hemoglobin, OMIM:141749;Methemoglobinemia, beta type, OMIM:617971;Thalassemia, beta, OMIM:613985;Thalassemia-beta, dominant inclusion-body, OMIM:603902;Sickle cell anemia, OMIM:603903 False 3 100;0;0 1.124 False ENSG00000244734 ENSG00000244734 HGNC:4827 HK1 gene HK1 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to hexokinase deficiency, OMIM:235700 12393545;7655856 False 3 100;0;0 1.124 False ENSG00000156515 ENSG00000156515 HGNC:4922 KIF23 gene KIF23 Expert Review Green;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enzyme Disorder;Congenital dyserythropoietic anemia type III;CDA III;Congenital dyserythropoietic anemia (CDA) 23570799;7711721;7323912 False 3 100;0;0 1.124 False ENSG00000137807 ENSG00000137807 HGNC:6392 KLF1 gene KLF1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type IV, OMIM:613673 21055716;29200155;24443441;25724378;27282573;28361594;28369821 False 3 100;0;0 1.124 False ENSG00000105610 ENSG00000105610 HGNC:6345 LPIN2 gene LPIN2 BRIDGE consortium (NIHRBR-RD);Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628;Microcytic anemia;Congenital dyserythropoietic anemia 2809904;10969284;11795677;17330256;23087183 False 3 100;0;0 1.124 False ENSG00000101577 ENSG00000101577 HGNC:14450 MPL gene MPL Expert list;Expert Review Green;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 Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 10077649;18024606 False 3 100;0;0 1.124 False ENSG00000117400 ENSG00000117400 HGNC:7217 MTR gene MTR Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 False 3 0;0;0 1.124 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type, 236270 9501215;12555939;15714522 False 3 0;0;0 1.124 False ENSG00000124275 ENSG00000124275 HGNC:7473 NBN gene NBN Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065;Nijmegen breakage syndrome, 251260 11325820;15338273 False 3 100;0;0 1.124 False ENSG00000104320 ENSG00000104320 HGNC:7652 NHP2 gene NHP2 Expert list;Expert Review Green;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 2, 613987 18523010;31985013 False 3 100;0;0 1.124 False ENSG00000145912 ENSG00000145912 HGNC:14377 NT5C3A gene NT5C3A Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Anemia, hemolytic, due to UMPH1 deficiency 266120" 12930399;12714505;11369620 False 3 100;0;0 1.124 False ENSG00000122643 ENSG00000122643 HGNC:17820 PALB2 gene PALB2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N 610832 17200672;17200671 False 3 100;0;0 1.124 False ENSG00000083093 ENSG00000083093 HGNC:26144 PFKM gene PFKM BRIDGE consortium (NIHRBR-RD);Expert Review Green;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 Glycogen storage disease VII, 232800 7513946;7479776;8889589 False 3 100;0;0 1.124 False ENSG00000152556 ENSG00000152556 HGNC:8877 PIEZO1 gene PIEZO1 BRIDGE consortium (NIHRBR-RD);Expert Review Green Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380;Hereditary xerocytosis 22529292;23695678;16898969;23479567;23973043;23581886 False 3 100;0;0 1.124 False ENSG00000103335 ENSG00000103335 HGNC:28993 PKLR gene PKLR Expert Review Green;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency, OMIM:266200 8579052;8616073;8664896;15982340;15953013;1549130;18420493;1896471 False 3 100;0;0 1.124 False ENSG00000143627 ENSG00000143627 HGNC:9020 PUS1 gene PUS1 Expert Review Green;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 Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 15108122;17056637;25227147 False 3 100;0;0 1.124 False ENSG00000177192 ENSG00000177192 HGNC:15508 RAP1B gene RAP1B Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654;Syndromic intellectual disability;Cytopenia 32627184;26280580 False 3 0;100;0 1.124 False ENSG00000127314 ENSG00000127314 HGNC:9857 RHAG gene RHAG Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR);Overhydrated hereditary stomatocytosis, OMIM:185000 (AD) 3920829;21849667;8563755;2917122;21849667;9746795;9454778;9716608 False 3 100;0;0 1.124 False ENSG00000112077 ENSG00000112077 HGNC:10006 RMRP gene RMRP BRIDGE consortium (NIHRBR-RD);Expert Review Green Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia; Cartilage-hair hypoplasia 11207361 False 3 100;0;0 1.124 False ENSG00000269900 ENSG00000269900 HGNC:10031 RPL11 gene RPL11 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 7, 612562;Diamond_Blackfan Anemia 7;DIAMOND-BLACKFAN ANEMIA 7 19061985;19191325 False 3 100;0;0 1.124 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5 25946618;18535205 False 3 100;0;0 1.124 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6 25946618;19061985;19191325 False 3 100;0;0 1.124 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;Diamond_Blackfan Anemia 9;DIAMOND-BLACKFAN ANEMIA 9 20116044;25946618;23718193 False 3 100;0;0 1.124 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4 612527 17647292;19061985;19953637;22045982 False 3 100;0;0 1.124 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1 24675553;25946618;9988267;15384984 False 3 100;0;0 1.124 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-blackfan anemia 3, 610629;Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3 17186470;25946618;2210388;19773262;8647458;19689926 False 3 100;0;0 1.124 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10 20116044;24942156;24675553;25946618 False 3 100;0;0 1.124 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert list;Expert Review Green;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;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 8, 612563;Diamond_Blackfan Anemia 8;DIAMOND-BLACKFAN ANEMIA 8 25946618;19061985;23718193;27882484 False 3 100;0;0 1.124 False ENSG00000171863 ENSG00000171863 HGNC:10440 RTEL1 gene RTEL1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5 615190;Dyskeratosis congenita, autosomal dominant 4 615190 23591994;23453664;23329068 False 3 100;0;0 1.124 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, 617053 27182967 False 3 100;0;0 1.124 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Ataxia-pancytopenia syndrome 159550" 27259050;28202457 False 3 100;0;0 1.124 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Eligibility statement prior genetic testing;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 260400 12496757;14749921 False 3 100;0;0 1.124 False ENSG00000126524 ENSG00000126524 HGNC:19440 SEC23B gene SEC23B Emory Genetics Laboratory;Expert Review Green;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 Dyserythropoietic anemia, congenital, type II, OMIM:224100 19621418;19561605 False 3 100;0;0 1.124 False ENSG00000101310 ENSG00000101310 HGNC:10702 SLC11A2 gene SLC11A2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, hypochromic microcytic, with iron overload 1 206100 16160008;15459009;16439678 False 3 100;0;0 1.124 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC19A2 gene SLC19A2 Expert Review Green;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 Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 10391221 False 3 100;0;0 1.124 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory 205950 19412178 False 3 100;0;0 1.124 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC2A1 gene SLC2A1 BRIDGE consortium (NIHRBR-RD);Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stomatocytosis; Pyridoxine-refractory sideroblastic anemia 21791420;22492876;15180870;21791420;22492876 False 3 100;0;0 1.124 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC46A1 gene SLC46A1 Expert Review;Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;anemia;pancytopenia 21333572;17446347;29390264;11804211;17641272 False 3 100;0;0 1.124 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Haemolytic Anemia;RBC membrane abnormality;Cryohydrocytosis,185020;Ovalocytosis, SA type, 166900;Spherocytosis, type 4, 612653 16227998;8608262;7949112;2146504;1722314;8471774;8282779;8547122 False 3 100;0;0 1.124 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLX4 gene SLX4 Expert list;Expert Review Green;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 P, 613951 21240275;21240277 False 3 100;0;0 1.124 False ENSG00000188827 ENSG00000188827 HGNC:23845 SPTA1 gene SPTA1 BRIDGE consortium (NIHRBR-RD);Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal RBC membrane abnormality;Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600;Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140;Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970 2567189;1353056;2794061;3597773;1541680;8226774;16150946;3785322;8941647 False 3 100;0;0 1.124 False ENSG00000163554 ENSG00000163554 HGNC:11272 SPTB gene SPTB BRIDGE consortium (NIHRBR-RD);Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal RBC membrane abnormality;Elliptocytosis;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 False 3 100;0;0 1.124 False ENSG00000070182 ENSG00000070182 HGNC:11274 TAZ gene TAZ Expert Review Green;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Barth syndrome 302060" False 3 100;0;0 1.124 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCN2 gene TCN2 Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. 24305960;7980584;7849710;20352340;18956254 False 3 100;0;0 1.124 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERT gene TERT Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD) 15885610;19179534;15814878 False 3 100;0;0 1.124 False ENSG00000164362 ENSG00000164362 HGNC:11730 TF gene TF Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Atransferrinemia, 209300;Congenital hypotransferrinemia 11110675;3472216;10660486;8187613;1862777 False 3 0;0;0 1.124 False ENSG00000091513 ENSG00000091513 HGNC:11740 TMPRSS6 gene TMPRSS6 Expert Review Green;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 Iron-Refractory Iron Deficiency Anemia;Iron refractoryirondeficiencyanemia,206200 18408718 False 3 100;0;0 1.124 False ENSG00000187045 ENSG00000187045 HGNC:16517 TPI1 gene TPI1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder 10910933;17879449;10910933;20374271;7485100 False 3 100;0;0 1.124 False ENSG00000111669 ENSG00000111669 HGNC:12009 UBE2T gene UBE2T BRIDGE consortium (NIHRBR-RD);Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Falcon anemia;Fanconi anemia, complementation group T, 616435 26046368 False 3 100;0;0 1.124 False ENSG00000077152 ENSG00000077152 HGNC:25009 UROS gene UROS Expert Review;Expert Review Green Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic 263700 False 3 100;0;0 1.124 False ENSG00000188690 ENSG00000188690 HGNC:12592 VPS45 gene VPS45 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive, 615285;Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;VPS45 deficiency;Severe congenital neutropenia 23738510;23599270 False 3 100;0;0 1.124 False ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropenia, severe congenital, X-linked 300299;Thrombocytopenia, X-linked 313900;Thrombocytopenia, X-linked, intermittent 313900;Wiskott-Aldrich syndrome 301000 16804117 False 3 100;0;0 1.124 False ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert Review Green;Radboud University Medical Center, Nijmegen Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent 22231303;9405671;11869681;14757742;27742395 False 3 100;0;0 1.124 False ENSG00000115935 ENSG00000115935 HGNC:12736 XK gene XK Expert Review Green;Literature Cytopenias and congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 11761473;11761473 False 3 100;0;0 1.124 False ENSG00000047597 ENSG00000047597 HGNC:12811 YARS2 gene YARS2 Expert Review Green;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 Myopathy, lactic acidosis, and sideroblastic anemia 2 613561 24344687;20598274;24430573 False 3 100;0;0 1.124 False ENSG00000139131 ENSG00000139131 HGNC:24249