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 AK1 gene AK1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to adenylate kinase deficiency, 612631 False 1 0;0;0 0.99 False ENSG00000106992 ENSG00000106992 HGNC:361 AMN gene AMN Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Megaloblastic anemia-1, Norwegian type, 261100 False 1 0;0;0 0.99 False ENSG00000166126 ENSG00000166126 HGNC:14604 C15orf41 gene C15orf41 Eligibility statement prior genetic testing;Expert Review Red;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Congenital Dyserythropoietic Anemia False 1 0;0;0 0.99 False ENSG00000186073 ENSG00000186073 HGNC:26929 CD59 gene CD59 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 False 1 0;0;0 0.99 False ENSG00000085063 ENSG00000085063 HGNC:1689 DHFR gene DHFR Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 False 1 0;0;0 0.99 False ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000130826 ENSG00000130826 HGNC:2890 EPHX1 gene EPHX1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;0 0.99 False ENSG00000143819 ENSG00000143819 HGNC:3401 FANCM gene FANCM Expert Review Red;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 M, 614087 False 1 0;0;0 0.99 False ENSG00000187790 ENSG00000187790 HGNC:23168 GCLC gene GCLC Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446 False 1 0;0;0 0.99 False ENSG00000001084 ENSG00000001084 HGNC:4311 GLRX5 gene GLRX5 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 False 1 0;0;0 0.99 False ENSG00000182512 ENSG00000182512 HGNC:20134 GPI gene GPI Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 False 1 0;0;0 0.99 False ENSG00000105220 ENSG00000105220 HGNC:4458 GPX1 gene GPX1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to glutathione peroxidase deficiency, 614164 False 1 0;0;0 0.99 False ENSG00000233276 ENSG00000233276 HGNC:4553 GSS gene GSS Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130 False 1 0;0;0 0.99 False ENSG00000100983 ENSG00000100983 HGNC:4624 HBA1 gene HBA1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978;5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978 False 1 0;0;0 0.99 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978;Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 False 1 0;0;0 0.99 False ENSG00000188536 ENSG00000188536 HGNC:4824 HBB gene HBB Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162;Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162 False 1 0;0;0 0.99 False ENSG00000244734 ENSG00000244734 HGNC:4827 HBD gene HBD Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Thalassemia,delta ThalassemiaduetoHbLepore;Thalassemia,delta ThalassemiaduetoHbLepore False 1 0;0;0 0.99 False ENSG00000223609 ENSG00000223609 HGNC:4829 HEPH gene HEPH UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000089472 ENSG00000089472 HGNC:4866 HK1 gene HK1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285 False 1 0;0;0 0.99 False ENSG00000156515 ENSG00000156515 HGNC:4922 IFNG gene IFNG Illumina TruGenome Clinical Sequencing Services Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 1 0;0;0 0.99 False ENSG00000111537 ENSG00000111537 HGNC:5438 KIF23 gene KIF23 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000137807 ENSG00000137807 HGNC:6392 MTR gene MTR Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;0 0.99 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 False 1 0;0;0 0.99 False ENSG00000124275 ENSG00000124275 HGNC:7473 NHP2 gene NHP2 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOP10 gene NOP10 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000182117 ENSG00000182117 HGNC:14378 NT5C3A gene NT5C3A UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000122643 ENSG00000122643 HGNC:17820 PKLR gene PKLR UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000143627 ENSG00000143627 HGNC:9020 RHAG gene RHAG Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome;Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome False 1 0;0;0 0.99 False ENSG00000112077 ENSG00000112077 HGNC:10006 RPL19 gene RPL19 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000108298 ENSG00000108298 HGNC:10312 RPL26 gene RPL26 Expert list;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Diamond Blackfan anemia False 1 0;0;0 0.99 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL9 gene RPL9 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS14 gene RPS14 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3;Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3 False 1 0;0;0 0.99 False ENSG00000164587 ENSG00000164587 HGNC:10387 RPS27 gene RPS27 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS29 gene RPS29 Expert list;UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders Diamond Blackfan anemia False 1 0;0;0 0.99 False ENSG00000213741 ENSG00000213741 HGNC:10419 SBDS gene SBDS UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000126524 ENSG00000126524 HGNC:19440 SLC4A1 gene SLC4A1 Illumina TruGenome Clinical Sequencing Services Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic Anemia False 1 0;0;0 0.99 False ENSG00000004939 ENSG00000004939 HGNC:11027 TCN2 gene TCN2 Literature Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. PMID: 24305960;7980584;7849710;20352340;18956254 False 1 100;0;0 0.99 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000270141 ENSG00000270141 HGNC:11727 TF gene TF UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.99 False ENSG00000091513 ENSG00000091513 HGNC:11740 TINF2 gene TINF2 UKGTN Congenital anaemias Anaemias and red cell disorders Haematological disorders False 1 0;0;0 0.99 False ENSG00000092330 ENSG00000092330 HGNC:11824 TPI1 gene TPI1 Radboud University Medical Center, Nijmegen Congenital anaemias Anaemias and red cell disorders Haematological disorders Hemolytic anemia due to triosephosphate isomerase deficiency False 1 0;0;0 0.99 False ENSG00000111669 ENSG00000111669 HGNC:12009