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 ANKRD26 gene ANKRD26 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Congenital amegkaryocytic thrombocytopenia False 1 0;0;0 0.14 False ENSG00000107890 ENSG00000107890 HGNC:29186 BRCA2 gene BRCA2 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000136492 ENSG00000136492 HGNC:20473 CEBPA gene CEBPA Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Familial MDS (Myelodysplastic syndromes) False 1 0;0;0 0.14 False ENSG00000245848 ENSG00000245848 HGNC:1833 CSF3R gene CSF3R Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Severe congenital neutropenic False 1 0;0;0 0.14 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000178971 ENSG00000178971 HGNC:26169 CXCR4 gene CXCR4 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders WHIM sydrome False 1 0;0;0 0.14 False ENSG00000121966 ENSG00000121966 HGNC:2561 DKC1 gene DKC1 Eligibility statement prior genetic testing;Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000130826 ENSG00000130826 HGNC:2890 ELANE gene ELANE Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cyclic Neutropenia (AD); Neutropenia, Severe Congital 1, Autosomal Dominant;Severe congenital neutropenic False 1 0;0;0 0.14 False ENSG00000197561 ENSG00000197561 HGNC:3309 ERCC6L2 gene ERCC6L2 Radboud University Medical Center, Nijmegen Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Bone marrow failure syndrome 2, 615715 (3) False 1 0;0;0 0.14 False ENSG00000182150 ENSG00000182150 HGNC:26922 FANCA gene FANCA Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000187790 ENSG00000187790 HGNC:23168 G6PC3 gene G6PC3 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic False 1 0;0;0 0.14 False ENSG00000141349 ENSG00000141349 HGNC:24861 GATA1 gene GATA1 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Inherited Bone Marrow Failure Syndromes;Familial MDS (Myelodysplastic syndromes) False 1 0;0;0 0.14 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;Familial MDS (Myelodysplastic syndromes) False 1 0;0;0 0.14 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic False 1 0;0;0 0.14 False ENSG00000162676 ENSG00000162676 HGNC:4237 HAX1 gene HAX1 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic False 1 0;0;0 0.14 False ENSG00000143575 ENSG00000143575 HGNC:16915 HOXA11 gene HOXA11 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Congenital amegkaryocytic thrombocytopenia False 1 0;0;0 0.14 False ENSG00000005073 ENSG00000005073 HGNC:5101 IFNG gene IFNG Illumina TruGenome Clinical Sequencing Services Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Aplastic Anemia False 1 0;0;0 0.14 False ENSG00000111537 ENSG00000111537 HGNC:5438 MPL gene MPL Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes - Thrombocytopenia;Congenital amegkaryocytic thrombocytopenia False 1 0;0;0 0.14 False ENSG00000117400 ENSG00000117400 HGNC:7217 NBN gene NBN Radboud University Medical Center, Nijmegen Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065;Nijmegen breakage syndrome, 251260 False 1 0;0;0 0.14 False ENSG00000104320 ENSG00000104320 HGNC:7652 NHP2 gene NHP2 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOP10 gene NOP10 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000182117 ENSG00000182117 HGNC:14378 PALB2 gene PALB2 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000083093 ENSG00000083093 HGNC:26144 PIGA gene PIGA Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Paroxysmal nocturnal hemoglobinuria, somatic, 300818 False 1 0;0;0 0.14 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGT gene PIGT Radboud University Medical Center, Nijmegen Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398;?Paroxysmal nocturnal hemoglobinuria 2, 615399 False 1 0;0;0 0.14 False ENSG00000124155 ENSG00000124155 HGNC:14938 RAD51C gene RAD51C Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000108384 ENSG00000108384 HGNC:9820 RPL11 gene RPL11 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL26 gene RPL26 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS29 gene RPS29 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000213741 ENSG00000213741 HGNC:10419 RPS7 gene RPS7 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia False 1 0;0;0 0.14 False ENSG00000171863 ENSG00000171863 HGNC:10440 RTEL1 gene RTEL1 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis Congenita, Autosomal Dominant, 4; Dyskeratosis Congenita, Autosomal Recessive, 5;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUNX1 gene RUNX1 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - Thrombocytopenia;Familial MDS (Myelodysplastic syndromes) False 1 0;0;0 0.14 False ENSG00000159216 ENSG00000159216 HGNC:10471 SLX4 gene SLX4 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Fanconi anemia False 1 0;0;0 0.14 False ENSG00000188827 ENSG00000188827 HGNC:23845 TERC gene TERC Eligibility statement prior genetic testing;Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000270141 ENSG00000270141 HGNC:11727 USB1 gene USB1 Expert list Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000103005 ENSG00000103005 HGNC:25792 WAS gene WAS Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Inherited Bone Marrow Failure Syndromes - Neutropenia;Inherited Bone Marrow Failure Syndromes - Thrombocytopenia;Wiskot Aldrich syndrome False 1 0;0;0 0.14 False ENSG00000015285 ENSG00000015285 HGNC:12731 WRAP53 gene WRAP53 Expert list;UKGTN Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria Anaemias and red cell disorders Haematological and immunological disorders BIALLELIC, autosomal or pseudoautosomal Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita False 1 0;0;0 0.14 False ENSG00000141499 ENSG00000141499 HGNC:25522