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 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