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 ACD gene ACD Expert Review Green;London South GLH;NHS GMS;North West GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 25233904;25205116 False 3 60;20;20 4.32 False ENSG00000102977 ENSG00000102977 HGNC:25070 ADA2 gene ADA2 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688;Sneddon syndrome, OMIM:182410;Diamond-Blackfan Anemia 25075847;24552285;24552284 False 3 67;33;0 4.32 False ENSG00000093072 ENSG00000093072 HGNC:1839 AK2 gene AK2 Expert list;Expert Review Green Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, 267500 19043416;19043417;23014587;31673062;32532877 False 3 100;0;0 4.32 False ENSG00000004455 ENSG00000004455 HGNC:362 ANKRD26 gene ANKRD26 Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 2, 188000 2121161;20626622 False 3 100;0;0 4.32 False ENSG00000107890 ENSG00000107890 HGNC:29186 CLPB gene CLPB Expert Review Green;Expert review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 25597510;25597511;25650066;26916670;28687938;34140661;34115842 False 3 67;0;33 4.32 False ENSG00000162129 ENSG00000162129 HGNC:30664 CSF3R gene CSF3R Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014 26324699;12203110;19620628 False 3 80;20;0 4.32 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita;Dyskeratosis Congenita, Recessive;Inherited Bone Marrow Failure Syndromes;612199 Coats plus syndrome;Dyskeratosis congenita 22532422;22899577;22267198;22387016 False 3 60;40;0 4.32 False ENSG00000178971 ENSG00000178971 HGNC:26169 CXCR2 gene CXCR2 Expert Review Green;Literature;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal ?WHIM syndrome 2, OMIM:619407 24777453;34854278 False 3 100;0;0 4.32 False ENSG00000180871 ENSG00000180871 HGNC:6027 CXCR4 gene CXCR4 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;193670 WHIM syndrome;WHIM syndrome, 193670;Severe congenital neutropenia 10767001;12692554 False 3 60;40;0 4.32 False ENSG00000121966 ENSG00000121966 HGNC:2561 CYCS gene CYCS Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, OMIM:612004 30051457;18345000 False 3 100;0;0 4.32 False ENSG00000172115 ENSG00000172115 HGNC:19986 DDX41 gene DDX41 Expert Review Green;London South GLH;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, 616871 25920683;26712909 False 3 67;33;0 4.32 False ENSG00000183258 ENSG00000183258 HGNC:18674 DKC1 gene DKC1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, 305000;305000 Dyskeratosis congenita;Dyskeratosis congenita 10364516;9888995;11379875 False 3 80;20;0 4.32 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Pancytopaenia;Bone Marrow Failure;617052 Bone marrow failure syndrome 3;Bone marrow failure syndrome 3, 617052 27346687 False 3 80;20;0 4.32 False ENSG00000168724 ENSG00000168724 HGNC:27030 DUT gene DUT Expert Review Green;Literature;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Bone marrow failure and diabetes mellitus syndrome, OMIM:620044 28073829;35611808;35931051 False 3 50;50;0 4.32 False ENSG00000128951 ENSG00000128951 HGNC:3078 EFL1 gene EFL1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2, OMIM:617941 29970384, 28331068;31151987 False 3 50;50;0 4.32 False ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutropenia, severe congenital 1, autosomal dominant, 202700;Neutropenia, cyclic, 162800;Neutropenia, severe congenital 1, autosomal dominant 202700;202700 Neutropenia, severe congenital 1;202700 Neutropenia, severe congenital 1, autosomal dominant;Neutropenia, cyclic 162800;162800 Cyclic neutropenia;162800 Neutropenia, cyclic 18028488;11001877;10581030 False 3 80;20;0 4.32 False ENSG00000197561 ENSG00000197561 HGNC:3309 ERCC6L2 gene ERCC6L2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 615715 Bone marrow failure syndrome 2;Bone marrow failure syndrome 2, 615715 24507776;27185855 False 3 80;20;0 4.32 False ENSG00000182150 ENSG00000182150 HGNC:26922 ETV6 gene ETV6 Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 616216 Thrombocytopenia 5 25581430;25807284 False 3 100;0;0 4.32 False ENSG00000139083 ENSG00000139083 HGNC:3495 FAS gene FAS Expert Review Green;NHS GMS;Other Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859 34171534 False 3 100;0;0 4.32 False ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert Review Green;NHS GMS;Other Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859 8787672;16627752;17605793;25451160;26334989 False 3 100;0;0 4.32 False ENSG00000117560 ENSG00000117560 HGNC:11936 FYB1 gene FYB1 Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 273900 Thrombocytopenia 3;Thrombocytopenia 3, 273900 25516138;25876182 False 3 75;25;0 4.32 False ENSG00000082074 ENSG00000082074 HGNC:4036 G6PC3 gene G6PC3 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dursun syndrome, 612541;Severe congenital neutropenic;612541 Neutropenia, severe congenital 4, autosomal recessive;Inherited Bone Marrow Failure Syndromes - Neutropenia;Neutropenia, severe congenital 4, autosomal recessive, 612541;Neutropenia, Severe Congenital, 4 Autosomal Dominant;612541 Neutropenia, severe congenital 4;Severe Congenital Neutropenia 19696212;19118303;20717171 False 3 80;20;0 4.32 False ENSG00000141349 ENSG00000141349 HGNC:24861 GATA1 gene GATA1 Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 314050 Thrombocytopenia with beta-thalassemia, X-linked;Diamond Blackfan Anaemia;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835;Myelodysplastic syndrome (MDS), Paediatric;Anaemia;thrombocytopenia 22706301;24952648;24766296;10700180;24453067;12200364;11809723 False 3 80;20;0 4.32 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital dyserythropoietic anemia (CDA);Myelodysplastic Syndrome;Familial MDS (Myelodysplastic syndromes);Leukemia, Acute Myeloid;{Leukemia, acute myeloid, susceptibility to}, 601626;Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies;{Myelodysplastic syndrome, susceptibility to}, 614286;Primary Lymphedema with Myelodysplasia;Lymphedema, Primary, With Myelodysplasia;Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency;614038 Emberger syndrome;Immunodeficiency 21;Emberger syndrome, 614038 (includes pancytopenia);Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 21892158;21892162 False 3 60;40;0 4.32 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 613107 Neutropenia, severe congenital 2;Severe congenital neutropenic;Inherited Bone Marrow Failure Syndromes - Neutropenia;Neutropenia, Severe Congenital, 2 Autosomal Dominant;Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107;607847 ?Neutropenia, nonimmune chronic idiopathic, of adults 12778173 False 3 100;0;0 4.32 False ENSG00000162676 ENSG00000162676 HGNC:4237 HAX1 gene HAX1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738;Severe congenital neutropenic;Inherited Bone Marrow Failure Syndromes - Neutropenia;610738 Neutropenia, severe congenital 3, autosomal recessive;610738 Neutropenia, severe congenital 3;Neutropenia, Severe Congenital, 3 Autosomal Dominant 18611981;17187068;18337561 False 3 80;20;0 4.32 False ENSG00000143575 ENSG00000143575 HGNC:16915 JAGN1 gene JAGN1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 616022 Neutropenia, severe congenital, 6;616022 Neutropenia, severe congenital, 6, autosomal recessive 11101832 False 3 50;50;0 4.32 False ENSG00000171135 ENSG00000171135 HGNC:26926 KLF1 gene KLF1 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type IV, OMIM:613673 21055716;29200155;24443441;25724378;27282573;28361594;28369821 False 3 67;33;0 4.32 False ENSG00000105610 ENSG00000105610 HGNC:6345 MECOM gene MECOM Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 29540340 False 3 100;0;0 4.32 False ENSG00000085276 ENSG00000085276 HGNC:3498 MPL gene MPL Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 10077649;18024606 False 3 100;0;0 4.32 False ENSG00000117400 ENSG00000117400 HGNC:7217 MYSM1 gene MYSM1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, 618116 24288411;28115216;26220525;32640305;22184403 False 3 33;67;0 4.32 False ENSG00000162601 ENSG00000162601 HGNC:29401 NHP2 gene NHP2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, 613987 18523010;31985013 False 3 40;60;0 4.32 False ENSG00000145912 ENSG00000145912 HGNC:14377 PARN gene PARN Expert Review Green;London South GLH;NHS GMS;North West GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, OMIM:616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 25848748;26342108;25893599 False 3 75;25;0 4.32 False ENSG00000140694 ENSG00000140694 HGNC:8609 RAP1B gene RAP1B Expert Review Green;Literature;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654;Syndromic intellectual disability;Cytopenia 26280580;32627184;35451551 False 3 75;25;0 4.32 False ENSG00000127314 ENSG00000127314 HGNC:9857 RMRP gene RMRP Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia;250250 Cartilage-hair hypoplasia;Severe congenital neutropenia 11207361;16832578 False 3 75;25;0 4.32 False ENSG00000269900 ENSG00000269900 HGNC:10031 RPA1 gene RPA1 Expert Review Green;Literature;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767 34767620 False 3 100;0;0 4.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132383 ENSG00000132383 HGNC:10289 RPL11 gene RPL11 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond_Blackfan Anemia 7;Diamond-Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 7;Diamond-Blackfan anemia 7, 612562;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 19191325;19061985;23718193;23812780 False 3 67;33;0 4.32 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 12, 615550 23812780;19438500;29599205 False 3 67;33;0 4.32 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL17 gene RPL17 Expert Review Green;Literature;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 22, OMIM:621262;Diamond-Blackfan anemia 22, MONDO:0979244 39088281 False 3 100;0;0 4.32 False ENSG00000265681 ENSG00000265681 HGNC:10307 RPL27 gene RPL27 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 16, OMIM:617408;Diamond-Blackfan anemia 16, MONDO:0044309 25424902;38988374 False 3 57;29;14 4.32 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL35A gene RPL35A Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 5, 612528;Diamond-Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 5;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan Anemia 5;Diamond Blackfan anemia 25946618;18535205 False 3 67;33;0 4.32 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 6, 612561;DIAMOND-BLACKFAN ANEMIA 6;Diamond Blackfan Anemia 6;Diamond-Blackfan Anemia;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 25946618;19191325;19061985 False 3 67;33;0 4.32 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited Bone Marrow Failure Syndromes;Diamond_Blackfan Anemia 9;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 9, 613308;DIAMOND-BLACKFAN ANEMIA 9;Diamond Blackfan anemia 25946618;20116044;23718193 False 3 67;33;0 4.32 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 4, 612527 22045982;19953637;17647292;19061985;23812780 False 3 67;33;0 4.32 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond_Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;DIAMOND-BLACKFAN ANEMIA 1;Diamond-Blackfan Anemia;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 25946618;24675553;15384984;9988267 False 3 67;33;0 4.32 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond_Blackfan Anemia 3;DIAMOND-BLACKFAN ANEMIA 3;Diamond-Blackfan Anemia;Inherited Bone Marrow Failure Syndromes;Diamond-blackfan anemia 3, 610629;Diamond Blackfan anemia 17186470;19689926;19773262;25946618;8647458;2210388;23812780 False 3 67;33;0 4.32 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited Bone Marrow Failure Syndromes;Diamond-Blackfan anemia 10;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 10, 613309;Diamond Blackfan anemia 24675553;25946618;24942156;20116044;23812780 False 3 67;33;0 4.32 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS29 gene RPS29 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 13, 615909;Diamond-Blackfan anaemia 24829207 False 3 50;50;0 4.32 False ENSG00000213741 ENSG00000213741 HGNC:10419 RPS7 gene RPS7 Expert Review Green;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DIAMOND-BLACKFAN ANEMIA 8;Diamond_Blackfan Anemia 8;Diamond-Blackfan anemia 8, 612563;Diamond-Blackfan Anemia;Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia 25946618;23718193;27882484;19061985 False 3 67;33;0 4.32 False ENSG00000171863 ENSG00000171863 HGNC:10440 RRAS gene RRAS Expert Review Green;Literature;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RRAS-related atypical Noonan syndrome 24705357;32815881;34935735 False 3 100;0;0 4.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126458 ENSG00000126458 HGNC:10447 RTEL1 gene RTEL1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related;615190 Dyskeratosis congenita;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3;615190 DC type 4 and 5;Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis congenita, autosomal recessive 5, 615190;Dyskeratosis congenita, autosomal recessive 5 615190 23453664;23329068;23959892 False 3 80;20;0 4.32 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, 617053;617053 MIRAGE syndrome 27182967 False 3 80;20;0 4.32 False ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 159550 Ataxia-pancytopenia syndrome;Ataxia-pancytopenia syndrome, 159550 27259050 False 3 80;20;0 4.32 False ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, 260400;260400 Shwachman-Diamond syndrome;Shwachman-Diamond syndrome 260400 12496757 False 3 80;20;0 4.32 False ENSG00000126524 ENSG00000126524 HGNC:19440 SRC gene SRC Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Thrombocytopenia 6, 616937 False 3 100;0;0 4.32 False ENSG00000197122 ENSG00000197122 HGNC:11283 SRP54 gene SRP54 Expert list;Expert Review Green Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, severe congenital, 8, autosomal dominant, 618752 28972538;29914977;32277798 False 3 100;0;0 4.32 False ENSG00000100883 ENSG00000100883 HGNC:11301 STN1 gene STN1 Expert Review Green;Literature Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 27432940;32627942 False 3 100;0;0 4.32 False ENSG00000107960 ENSG00000107960 HGNC:26200 TAZ gene TAZ Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, 302060;302060 Barth syndrome 9345098;9382096 False 3 80;20;0 4.32 False ENSG00000102125 ENSG00000102125 HGNC:11577 TERC gene TERC Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia;614743 pulmonary fibrosis and/or bone marrow failure;129550 Dyskeratosis congenita, autosomal dominant 1;Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1;127550 Dyskeratosis congenita, autosomal dominant 1;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1;Inherited Bone Marrow Failure Syndromes 11574891;12090986 False 3 60;40;0 4.32 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 21436073;18460650;18042801 False 3 60;40;0 4.32 False ENSG00000164362 ENSG00000164362 HGNC:11730 THPO gene THPO Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 187950 Thrombocythemia 1;Thrombocythemia 1, 187950 24085763;28466964;28559357;29191945 False 3 100;0;0 4.32 False ENSG00000090534 ENSG00000090534 HGNC:11795 TINF2 gene TINF2 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3, 613990;Revesz syndrome, 268130;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia 18669893;21536674 False 3 60;40;0 4.32 False ENSG00000092330 ENSG00000092330 HGNC:11824 USB1 gene USB1 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia, 604173;604173 Poikiloderma with neutropenia;Dyskeratosis congenita 20503306;20004881 False 3 60;40;0 4.32 False ENSG00000103005 ENSG00000103005 HGNC:25792 VPS45 gene VPS45 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal 615285 Neutropenia, severe congenital, 5;VPS45 deficiency;Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;Neutropenia, severe congenital, 5, autosomal recessive, 615285;615285 Neutropenia, severe congenital, 5, autosomal recessive;Severe congenital neutropenia 23738510;23599270 False 3 80;20;0 4.32 False ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert review Green;Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females 313900 Thrombocytopenia, X-linked;Neutropenia, severe congenital, X-linked, 300299;Thrombocytopenia, X-linked, intermittent 313900;313900 Thrombocytopenia;Wiskott-Aldrich syndrome, 301000;Thrombocytopenia, X-linked 313900;Thrombocytopenia, X-linked, intermittent, 313900 8528199;8757563;11167787 False 3 100;0;0 4.32 False ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal WIP deficiency;Wiskott-Aldrich syndrome like, WIP deficiency;?Wiskott-Aldrich syndrome 2, 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent;?Wiskott-Aldrich syndrome 2, 614493 27742395;11869681;22231303;14757742;9405671 False 3 67;33;0 4.32 False ENSG00000115935 ENSG00000115935 HGNC:12736 WRAP53 gene WRAP53 Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988;613988 Dyskeratosis congenita, autosomal recessive 3;Dyskeratosis Congenita, Recessive;300299 Neutropenia, severe congenital, X-linked;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Recessive, 3;Inherited Bone Marrow Failure Syndromes 29514627;21205863 False 3 60;40;0 4.32 False ENSG00000141499 ENSG00000141499 HGNC:25522