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