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 ALAS2 gene ALAS2 Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders 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, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752;Sideroblastic Anemia and Ataxia;Sideroblastic anaemia ;ANEMIA, HEREDITARYSIDEROBLASTIC X-linked False 3 100;0;0 0.38 False ENSG00000158578 ENSG00000158578 HGNC:397 BRCA2 gene BRCA2 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;{Breast-ovarian cancer, familial, 2}, 612555Fanconi anemia, complementation group D1, 605724Prostate cancer, 176807{Breast cancer, male, susceptibility to}, 114480Wilms tumor, 194070{Medulloblastoma}, 155255{Glioblastoma 3}, 613029{Pre-B-cell acute lymphoblastic leukemia}Pancreatic cancer, 613347;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 Anaemia False 3 100;0;0 0.38 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;?Breast cancer, early-onset, 114480Fanconi anemia, complementation group J, 609054;Fanconi anemia;?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000136492 ENSG00000136492 HGNC:20473 CDAN1 gene CDAN1 Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Dyserythropoietic Anemia;Anemia,congenitaldyserythropoietic,typeI,224120;ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I False 3 100;0;0 0.38 False ENSG00000140326 ENSG00000140326 HGNC:1713 DKC1 gene DKC1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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) Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000;Dyskeratosis Congenita, X-linked;DYSKERATOSIS CONGENITA, X-LINKED;Inherited Bone Marrow Failure Syndromes False 3 100;0;0 0.38 False ENSG00000130826 ENSG00000130826 HGNC:2890 FANCA gene FANCA Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group A, 227650;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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) Fanconi anemia;Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;Fanconi Anemia Type B;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group C, 227645;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group D2, 227646;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group E, 600901;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group F, 603467;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group G, 614082;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group I, 609053;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group L, 614083;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000115392 ENSG00000115392 HGNC:20748 G6PC3 gene G6PC3 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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, 612541Dursun syndrome, 612541;Severe Congenital Neutropenia False 3 100;0;0 0.38 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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 deficiencyFavism, 134700{Resistance to malaria due to G6PD deficiency}, 611162;Glucose-6-Phosphate Dehydrogenase Deficiency;Hemolytic anemia due to G6PD deficiency False 3 100;0;0 0.38 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA2 gene GATA2 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;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 3 100;0;0 0.38 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107 False 3 100;0;0 0.38 False ENSG00000162676 ENSG00000162676 HGNC:4237 HAX1 gene HAX1 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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 False 3 100;0;0 0.38 False ENSG00000143575 ENSG00000143575 HGNC:16915 KLF1 gene KLF1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Dyserythropoietic Anemia;Bloodgroup Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673;Anemia, dyserythropoietic congenital, type IV False 3 100;0;0 0.38 False ENSG00000105610 ENSG00000105610 HGNC:6345 MPL gene MPL Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes - Thrombocytopenia;Congenital amegkaryocytic thrombocytopenia;Congenital Amegakaryocytic Thrombocytopenia;Amegakaryocytic Thrombocytopenia, Congenital False 3 100;0;0 0.38 False ENSG00000117400 ENSG00000117400 HGNC:7217 NHP2 gene NHP2 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 2, 613987;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 2;DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 False 3 100;0;0 0.38 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOP10 gene NOP10 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 1, 224230;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 1;DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 False 3 100;0;0 0.38 False ENSG00000182117 ENSG00000182117 HGNC:14378 PALB2 gene PALB2 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group N, 610832{Breast cancer, susceptibility to}, 114480{Pancreatic cancer, susceptibility to, 3}, 613348;Fanconi anemia;Fanconi anemia, complementation group N, 610832; {Breast cancer, susceptibility to}, 114480; {Pancreatic cancer, susceptibility to, 3}, 613348;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000083093 ENSG00000083093 HGNC:26144 RPL11 gene RPL11 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 7, 612562;Diamond_Blackfan Anemia 7;DIAMOND-BLACKFAN ANEMIA 7 False 3 100;0;0 0.38 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 5, 612528;Diamond_Blackfan Anemia 5;DIAMOND-BLACKFAN ANEMIA 5 False 3 100;0;0 0.38 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 6, 612561;Diamond_Blackfan Anemia 6;DIAMOND-BLACKFAN ANEMIA 6 False 3 100;0;0 0.38 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;Diamond_Blackfan Anemia 9;DIAMOND-BLACKFAN ANEMIA 9 False 3 100;0;0 0.38 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS19 gene RPS19 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1 False 3 100;0;0 0.38 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-blackfan anemia 3, 610629;Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3 False 3 100;0;0 0.38 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond_Blackfan Anemia 10;Diamond-Blackfan anemia 10 False 3 100;0;0 0.38 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 8, 612563;Diamond_Blackfan Anemia 8;DIAMOND-BLACKFAN ANEMIA 8 False 3 100;0;0 0.38 False ENSG00000171863 ENSG00000171863 HGNC:10440 SEC23B gene SEC23B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia;Anemia,dyserythropoieticcongenital,typeII,224100;ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II False 3 100;0;0 0.38 False ENSG00000101310 ENSG00000101310 HGNC:10702 SLC25A38 gene SLC25A38 Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Hereditary Sideroblastic Anemia;Sideroblastic anaemia ;ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE False 3 100;0;0 0.38 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLX4 gene SLX4 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group P, 613951;Fanconi anemia;Fanconi Anaemia False 3 100;0;0 0.38 False ENSG00000188827 ENSG00000188827 HGNC:23845 SRP72 gene SRP72 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Bone Marrow Failure, Familial;Bone marrow failure, familial, 614675;Familial Bone Marrow Failure;Familial MDS (Myelodysplastic syndromes);Bone Marrow Failure, Familial False 3 100;0;0 0.38 False ENSG00000174780 ENSG00000174780 HGNC:11303 TCN2 gene TCN2 Expert Review Green;Literature Anaemias 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. 24305960;7980584;7849710;20352340;18956254 False 3 100;0;0 0.38 True ENSG00000185339 ENSG00000185339 HGNC:11653 TERT gene TERT Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aplastic Anemia; {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; Inherited Bone Marrow Failure Syndromes; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere Related Pulmonary Fibrosis And/Or Bone Marrow Failure 1; ;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; {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 3 100;0;0 0.38 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome;Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130;Revesz Syndrome;Dyskeratosis congenita;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 False 3 100;0;0 0.38 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMPRSS6 gene TMPRSS6 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Iron-Refractory Iron Deficiency Anemia;Iron refractoryirondeficiencyanemia,206200 False 3 100;0;0 0.38 False ENSG00000187045 ENSG00000187045 HGNC:16517 WRAP53 gene WRAP53 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 3, 613988;Dyskeratosis Congenita, Recessive;Dyskeratosis Congenita, Autosomal Recessive, 3 False 3 100;0;0 0.38 False ENSG00000141499 ENSG00000141499 HGNC:25522 ABCB7 gene ABCB7 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders 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) Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310 False 2 100;0;0 0.38 False ENSG00000131269 ENSG00000131269 HGNC:48 ANKRD26 gene ANKRD26 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias 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 0.38 False ENSG00000107890 ENSG00000107890 HGNC:29186 BAAT gene BAAT Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial, 607748;Hypercholanemia False 2 0;0;0 0.38 False ENSG00000136881 ENSG00000136881 HGNC:932 COX4I2 gene COX4I2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 False 2 0;0;0 0.38 False ENSG00000131055 ENSG00000131055 HGNC:16232 CTC1 gene CTC1 Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders 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 False 2 100;0;0 0.38 False ENSG00000178971 ENSG00000178971 HGNC:26169 CUBN gene CUBN Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia False 2 0;0;0 0.38 False ENSG00000107611 ENSG00000107611 HGNC:2548 CYCS gene CYCS Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias 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 0.38 False ENSG00000172115 ENSG00000172115 HGNC:19986 ELANE gene ELANE Expert list;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cyclic Neutropenia (AD); Neutropenia, Severe Congital 1, Autosomal Dominant;Severe congenital neutropenic;Neutropenia, Severe Congenital, 1 Autosomal Dominant; Cyclic Neutropenia;Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700 False 2 100;0;0 0.38 False ENSG00000197561 ENSG00000197561 HGNC:3309 GATA1 gene GATA1 Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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) 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;Inherited Bone Marrow Failure Syndromes;Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835 False 2 100;0;0 0.38 False ENSG00000102145 ENSG00000102145 HGNC:4170 MASTL gene MASTL Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia False 2 0;0;0 0.38 False ENSG00000120539 ENSG00000120539 HGNC:19042 PUS1 gene PUS1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, Lactic Acidosis, and Sideroblastic Anemia;Mitochondrialmyopathyandsideroblasticanemia1,600462 False 2 0;0;0 0.38 False ENSG00000177192 ENSG00000177192 HGNC:15508 RAD51C gene RAD51C Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group O, 613390{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi anemia;Fanconi anemia, complementation group O, 613390; {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi Anaemia False 2 100;0;0 0.38 False ENSG00000108384 ENSG00000108384 HGNC:9820 RBM8A gene RBM8A Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders Thrombocytopenia Absent-Radius Syndrome False 2 0;0;0 0.38 False ENSG00000131795 ENSG00000265241 HGNC:9905 RPS17 gene RPS17 Expert list;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan anemia 4, 612527;Diamond_Blackfan Anemia 4;DIAMOND-BLACKFAN ANEMIA 4 False 2 100;0;0 0.38 False ENSG00000182774 ENSG00000182774 HGNC:10397 RTEL1 gene RTEL1 Expert list;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis Congenita, Autosomal Dominant, 4; Dyskeratosis Congenita, Autosomal Recessive, 5;Dyskeratosis congenita;Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis Congenita, Autosomal Recessive, 5 False 2 100;0;0 0.38 False ENSG00000258366 ENSG00000258366 HGNC:15888 SBDS gene SBDS Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Shwachman_Diamond Syndrome;Shwachman-Bodian-Diamond syndrome;Shwachman Diamond syndrome (SDS) ;Shwachman-Bodian-Diamond syndrome, 260400;Shwachman-Diamond Syndrome;SHWACHMAN-DIAMOND SYNDROME False 2 100;0;0 0.38 False ENSG00000126524 ENSG00000126524 HGNC:19440 SLC11A2 gene SLC11A2 Illumina TruGenome Clinical Sequencing Services;UKGTN Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hypochromic Microcytic Anemia with Iron Overload False 2 100;0;0 0.38 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC19A2 gene SLC19A2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-Responsive Megaloblastic Anemia;Thiamine responsivemegaloblasticanemiasyndrome,249270 False 2 0;0;0 0.38 False ENSG00000117479 ENSG00000117479 HGNC:10938 WAS gene WAS Expert list;Radboud University Medical Center, Nijmegen;UKGTN Anaemias and red cell disorders 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) Wiskott-Aldrich syndrome, 301000;Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299;Thrombocytopenia, 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;Inherited Bone Marrow Failure Syndromes - Neutropenia;Inherited Bone Marrow Failure Syndromes - Thrombocytopenia False 2 100;0;0 0.38 False ENSG00000015285 ENSG00000015285 HGNC:12731 YARS2 gene YARS2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Anaemias and red cell disorders Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis;Myopathy,lacticacidosis,andsideroblasticanemia2,613561 False 2 0;0;0 0.38 False ENSG00000139131 ENSG00000139131 HGNC:24249