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;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752;Sideroblastic Anemia and Ataxia;Sideroblastic anaemia False 3 0;0;0 0.99 False ENSG00000158578 ENSG00000158578 HGNC:397 BRCA2 gene BRCA2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;?Breast cancer, early-onset, 114480Fanconi anemia, complementation group J, 609054 False 3 0;0;0 0.99 False ENSG00000136492 ENSG00000136492 HGNC:20473 CDAN1 gene CDAN1 Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital Dyserythropoietic Anemia;Anemia,congenitaldyserythropoietic,typeI,224120 False 3 0;0;0 0.99 False ENSG00000140326 ENSG00000140326 HGNC:1713 FANCA gene FANCA Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group A, 227650 False 3 0;0;0 0.99 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN 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) Fanconi anemia;Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked False 3 0;0;0 0.99 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group C, 227645 False 3 0;0;0 0.99 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group D2, 227646 False 3 0;0;0 0.99 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group E, 600901 False 3 0;0;0 0.99 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group F, 603467 False 3 0;0;0 0.99 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group G, 614082 False 3 0;0;0 0.99 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group I, 609053 False 3 0;0;0 0.99 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group L, 614083 False 3 0;0;0 0.99 False ENSG00000115392 ENSG00000115392 HGNC:20748 G6PD gene G6PD Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 deficiencyFavism, 134700{Resistance to malaria due to G6PD deficiency}, 611162;Glucose-6-Phosphate Dehydrogenase Deficiency False 3 0;0;0 0.99 False ENSG00000160211 ENSG00000160211 HGNC:4057 KLF1 gene KLF1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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;Bloodgroup Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673 False 3 0;0;0 0.99 False ENSG00000105610 ENSG00000105610 HGNC:6345 PALB2 gene PALB2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000083093 ENSG00000083093 HGNC:26144 RAD51C gene RAD51C Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000108384 ENSG00000108384 HGNC:9820 RPL11 gene RPL11 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL35A gene RPL35A Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS19 gene RPS19 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias 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 False 3 0;0;0 0.99 False ENSG00000171863 ENSG00000171863 HGNC:10440 SEC23B gene SEC23B Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Congenital dyserythropoietic anemia type II;Congenital Dyserythropoietic Anemia;Anemia,dyserythropoieticcongenital,typeII,224100 False 3 0;0;0 0.99 False ENSG00000101310 ENSG00000101310 HGNC:10702 SLC25A38 gene SLC25A38 Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Hereditary Sideroblastic Anemia;Sideroblastic anaemia False 3 0;0;0 0.99 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLX4 gene SLX4 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group P, 613951 False 3 0;0;0 0.99 False ENSG00000188827 ENSG00000188827 HGNC:23845 TMPRSS6 gene TMPRSS6 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Iron-Refractory Iron Deficiency Anemia;Iron refractoryirondeficiencyanemia,206200;Iron refractoryirondeficiencyanemia,206200 False 3 0;0;0 0.99 False ENSG00000187045 ENSG00000187045 HGNC:16517 ABCB7 gene ABCB7 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females Sideroblastic Anemia and Ataxia;Anemia, sideroblastic, with ataxia, 301310 False 2 0;0;0 0.99 False ENSG00000131269 ENSG00000131269 HGNC:48 BAAT gene BAAT Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial, 607748;Hypercholanemia False 2 0;0;0 0.99 False ENSG00000136881 ENSG00000136881 HGNC:932 COX4I2 gene COX4I2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias 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 0.99 False ENSG00000131055 ENSG00000131055 HGNC:16232 CUBN gene CUBN Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia False 2 0;0;0 0.99 False ENSG00000107611 ENSG00000107611 HGNC:2548 ERCC4 gene ERCC4 Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 False 2 0;0;0 0.99 False ENSG00000175595 ENSG00000175595 HGNC:3436 GATA1 gene GATA1 Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835;Congenital Dyserythropoietic Anemia;Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835 False 2 0;0;0 0.99 False ENSG00000102145 ENSG00000102145 HGNC:4170 PUS1 gene PUS1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, Lactic Acidosis, and Sideroblastic Anemia;Mitochondrialmyopathyandsideroblasticanemia1,600462 False 2 0;0;0 0.99 False ENSG00000177192 ENSG00000177192 HGNC:15508 RPS17 gene RPS17 Expert list;Radboud University Medical Center, Nijmegen;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Diamond-Blackfan anemia 4, 612527;Diamond Blackfan anemia False 2 0;0;0 0.99 False ENSG00000182774 ENSG00000182774 HGNC:10397 SLC11A2 gene SLC11A2 Illumina TruGenome Clinical Sequencing Services;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hypochromic Microcytic Anemia with Iron Overload False 2 0;0;0 0.99 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC19A2 gene SLC19A2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-Responsive Megaloblastic Anemia;Thiamine responsivemegaloblasticanemiasyndrome,249270;Thiamine responsivemegaloblasticanemiasyndrome,249270 False 2 0;0;0 0.99 False ENSG00000117479 ENSG00000117479 HGNC:10938 TERT gene TERT Illumina TruGenome Clinical Sequencing Services;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 2 0;0;0 0.99 False ENSG00000164362 ENSG00000164362 HGNC:11730 YARS2 gene YARS2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital anaemias 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 0.99 False ENSG00000139131 ENSG00000139131 HGNC:24249