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 BRCA2 gene BRCA2 Expert list;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;{Breast-ovarian cancer, familial, 2}, 612555;Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3}, 613029; Pancreatic cancer, 613347;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;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;?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000136492 ENSG00000136492 HGNC:20473 DKC1 gene DKC1 Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;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 Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000;Dyskeratosis Congenita, X-linked;DYSKERATOSIS CONGENITA, X-LINKED False 3 0;0;0 0.260 False ENSG00000130826 ENSG00000130826 HGNC:2890 FANCA gene FANCA Expert list;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 A, 227650;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Expert list;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 X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females Fanconi anemia;Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;Fanconi Anemia Type B;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list;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 C, 227645;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;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 D2, 227646;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;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 E, 600901;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list;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 F, 603467;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;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 G, 614082;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list;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 I, 609053;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;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 L, 614083;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000115392 ENSG00000115392 HGNC:20748 G6PC3 gene G6PC3 Expert list;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 Severe congenital neutropenic;Neutropenia, Severe Congenital, 4 Autosomal Dominant;Neutropenia, severe congenital 4, autosomal recessive, 612541Dursun syndrome, 612541;Severe Congenital Neutropenia False 3 0;0;0 0.260 False ENSG00000141349 ENSG00000141349 HGNC:24861 GATA2 gene GATA2 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial MDS (Myelodysplastic syndromes);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172; Emberger syndrome, 614038;{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 False 3 0;0;0 0.260 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107 False 3 0;0;0 0.260 False ENSG00000162676 ENSG00000162676 HGNC:4237 HAX1 gene HAX1 Expert list;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 Severe congenital neutropenic;Neutropenia, Severe Congenital, 3 Autosomal Dominant;Neutropenia, severe congenital 3, autosomal recessive, 610738 False 3 0;0;0 0.260 False ENSG00000143575 ENSG00000143575 HGNC:16915 MPL gene MPL Expert list;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 Congenital Amegakaryocytic Thrombocytopenia;Congenital amegkaryocytic thrombocytopenia;Amegakaryocytic Thrombocytopenia, Congenital False 3 0;0;0 0.260 False ENSG00000117400 ENSG00000117400 HGNC:7217 NHP2 gene NHP2 Expert list;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 Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 2, 613987;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 2;DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 False 3 0;0;0 0.260 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOP10 gene NOP10 Expert list;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 Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 1, 224230;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 1;DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 False 3 0;0;0 0.260 False ENSG00000182117 ENSG00000182117 HGNC:14378 PALB2 gene PALB2 Expert list;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 N, 610832; {Breast cancer, susceptibility to}, 114480; {Pancreatic cancer, susceptibility to, 3}, 613348;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000083093 ENSG00000083093 HGNC:26144 RAD51C gene RAD51C Expert list;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 O, 613390; {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000108384 ENSG00000108384 HGNC:9820 RPL11 gene RPL11 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 7, 612562;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 7;DIAMOND-BLACKFAN ANEMIA 7 False 3 0;0;0 0.260 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 5, 612528;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5 False 3 0;0;0 0.260 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 6, 612561;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6 False 3 0;0;0 0.260 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 9, 613308;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 9;DIAMOND-BLACKFAN ANEMIA 9 False 3 0;0;0 0.260 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS19 gene RPS19 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 1, 105650;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1 False 3 0;0;0 0.260 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-blackfan anemia 3, 610629;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3 False 3 0;0;0 0.260 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 10, 613309;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10 False 3 0;0;0 0.260 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia;Diamond-Blackfan anemia 8, 612563;Diamond-Blackfan Anemia;Diamond_Blackfan Anemia 8;DIAMOND-BLACKFAN ANEMIA 8 False 3 0;0;0 0.260 False ENSG00000171863 ENSG00000171863 HGNC:10440 SLX4 gene SLX4 Expert list;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 P, 613951;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.260 False ENSG00000188827 ENSG00000188827 HGNC:23845 TERT gene TERT Expert list;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita;{Bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989;{Coronary artery disease; {Pulmonary fibrosis, telomere-related, 1}, 614742;{Leukemia, acute myeloid}, 601626; {Melanoma, cutaneous malignant, 9}, 615134;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Dominant, 2; Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure-2;Bone marrow failure, telomere-related, 1 False 3 0;0;0 0.260 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert list;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita;Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3; Revesz Syndrome;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 False 3 0;0;0 0.260 False ENSG00000092330 ENSG00000092330 HGNC:11824 WRAP53 gene WRAP53 Expert list;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 Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 3, 613988;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 3 False 3 0;0;0 0.260 False ENSG00000141499 ENSG00000141499 HGNC:25522 ANKRD26 gene ANKRD26 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 2, 188000;Congenital amegkaryocytic thrombocytopenia False 2 0;0;0 0.260 False ENSG00000107890 ENSG00000107890 HGNC:29186 CTC1 gene CTC1 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita False 2 0;0;0 0.260 False ENSG00000178971 ENSG00000178971 HGNC:26169 CYCS gene CYCS Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 4, 612004 False 2 0;0;0 0.260 False ENSG00000172115 ENSG00000172115 HGNC:19986 ELANE gene ELANE Expert list;Radboud University Medical Center, Nijmegen;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe congenital neutropenic;Neutropenia, Severe Congenital, 1 Autosomal Dominant; Cyclic Neutropenia;Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700 False 2 0;0;0 0.260 False ENSG00000197561 ENSG00000197561 HGNC:3309 ERCC4 gene ERCC4 Radboud University Medical Center, Nijmegen;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Xeroderma pigmentosum, group F, 278760; XFE progeroid syndrome, 610965; Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Fanconi Anaemia False 2 0;0;0 0.260 False ENSG00000175595 ENSG00000175595 HGNC:3436 GATA1 gene GATA1 Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;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 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital Dyserythropoietic Anemia;Familial MDS (Myelodysplastic syndromes);Anemia, X-linked, with/without neutropenia and/or platelet abnormalities False 2 0;0;0 0.260 False ENSG00000102145 ENSG00000102145 HGNC:4170 MASTL gene MASTL Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia False 2 0;0;0 0.260 False ENSG00000120539 ENSG00000120539 HGNC:19042 RBM8A gene RBM8A Radboud University Medical Center, Nijmegen;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 2 0;0;0 0.260 False ENSG00000131795 ENSG00000265241 HGNC:9905 RPS17 gene RPS17 Expert list;Radboud University Medical Center, Nijmegen;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 4, 612527;Diamond_Blackfan Anemia 4;DIAMOND-BLACKFAN ANEMIA 4 False 2 0;0;0 0.260 False ENSG00000182774 ENSG00000182774 HGNC:10397 RTEL1 gene RTEL1 Expert list;Radboud University Medical Center, Nijmegen;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis Congenita, Autosomal Dominant, 4;Dyskeratosis Congenita, Autosomal Recessive, 5 False 2 0;0;0 0.260 False ENSG00000258366 ENSG00000258366 HGNC:15888 SBDS gene SBDS Expert list;Radboud University Medical Center, Nijmegen;UKGTN Early onset pancytopenia and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman Diamond syndrome (SDS) ;Shwachman-Bodian-Diamond syndrome, 260400;Shwachman-Diamond Syndrome;SHWACHMAN-DIAMOND SYNDROME False 2 0;0;0 0.260 False ENSG00000126524 ENSG00000126524 HGNC:19440 WAS gene WAS Expert list;Radboud University Medical Center, Nijmegen;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 Wiskott-Aldrich syndrome, 301000Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299Thrombocytopenia, X-linked, intermittent, 313900;Wiskot Aldrich syndrome;Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900;Neutropenia, severe congenital, X-linked, 300299;Thrombocytopenia, X-linked, intermittent, 313900;Neutropenia, Severe Congenital, X-Linked;Thrombocytopenia 1;Wiskott-Aldrich Syndrome False 2 0;0;0 0.260 False ENSG00000015285 ENSG00000015285 HGNC:12731 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