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 ABCG5 gene ABCG5 Expert review Amber;Expert Review Amber;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 Sitosterolemia with macrothrombocytopenia;Sitosterolemia, 210250 False 2 0;100;0 4.32 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert review Amber;Expert Review Amber;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 Sitosterolemia with macrothrombocytopenia;Sitosterolemia, 210250 False 2 0;100;0 4.32 False ENSG00000143921 ENSG00000143921 HGNC:13887 ACKR1 gene ACKR1 Expert Review Amber;London South GLH;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 613665 Benign hereditary neutropenia False 2 0;100;0 4.32 False ENSG00000213088 ENSG00000213088 HGNC:4035 ACTN1 gene ACTN1 Expert review Amber;Expert Review Amber;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 Bleeding disorder, platelet-type, 15, 615193;Macrothrombocytopenia False 2 0;100;0 4.32 False ENSG00000072110 ENSG00000072110 HGNC:163 ADAMTS13 gene ADAMTS13 Expert review Amber;Expert Review Amber;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 Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 False 2 0;100;0 4.32 False ENSG00000160323 ENSG00000160323 HGNC:1366 AP3B1 gene AP3B1 Expert review Amber;Expert Review Amber;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 Hermansky-Pudlak syndrome 2, 608233 False 2 0;100;0 4.32 False ENSG00000132842 ENSG00000132842 HGNC:566 CASP10 gene CASP10 Expert Review Amber;Other Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type II, OMIM:603909 34329798;38704374 False 2 50;50;0 4.32 False ENSG00000003400 ENSG00000003400 HGNC:1500 FLI1 gene FLI1 Expert review Amber;Expert Review Amber;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 Bleeding disorder, platelet-type, 21, 617443 False 2 0;100;0 4.32 False ENSG00000151702 ENSG00000151702 HGNC:3749 GP1BA gene GP1BA Expert review Amber;Expert Review Amber;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 Bernard-Soulier syndrome, type A1, 231200;Mild macrothrombocytopenia;Platelet type VWD, mild thrombocytopenia 2308962 False 2 50;50;0 4.32 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert review Amber;Expert Review Amber;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 Bernard-Soulier syndrome, type B, OMIM:231200;Giant platelet disorder, isolated, OMIM:231200;Macrothrombocytopenia 9116284;24934643;28064200;29527674;30609015;33657022;33813986 False 2 0;100;0 4.32 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP9 gene GP9 Expert review Amber;Expert Review Amber;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 Bernard-Soulier syndrome (includes macrothrombocytopenia);Bernard-Soulier syndrome, type C, 231200 False 2 0;100;0 4.32 False ENSG00000169704 ENSG00000169704 HGNC:4444 IKZF1 gene IKZF1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13,616873 False 2 0;100;0 4.32 False ENSG00000185811 ENSG00000185811 HGNC:13176 KIF23 gene KIF23 Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDA III;Congenital dyserythropoietic anemia (CDA);Congenital dyserythropoietic anemia type III;Enzyme Disorder 7711721;7323912;23570799 False 2 50;25;25 4.32 False ENSG00000137807 ENSG00000137807 HGNC:6392 LAT gene LAT Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, 617514 27522155;27242165 False 2 0;100;0 4.32 False ENSG00000213658 ENSG00000213658 HGNC:18874 MASTL gene MASTL Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown severe aplastic anemia;Thrombocytopenia 10891439;26136524;22102272 False 2 0;67;33 4.32 False ENSG00000120539 ENSG00000120539 HGNC:19042 MYH9 gene MYH9 Expert review Amber;Expert Review Amber;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 Macrothrombocytopenia, 155100 20174760 False 2 50;50;0 4.32 False ENSG00000100345 ENSG00000100345 HGNC:7579 NBEAL2 gene NBEAL2 Expert review Amber;Expert Review Amber;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 Gray platelet syndrome, 139090 20709904 False 2 50;50;0 4.32 False ENSG00000160796 ENSG00000160796 HGNC:31928 NBN gene NBN Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Aplastic anemia, 609135;251260 Nijmegen breakage syndrome;Leukemia, acute lymphoblastic, 613065;Nijmegen breakage syndrome, 251260 15338273;11325820 False 2 33;67;0 4.32 False ENSG00000104320 ENSG00000104320 HGNC:7652 NOP10 gene NOP10 Expert Review Amber;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 1, 224230 17507419 False 2 20;60;20 4.32 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPM1 gene NPM1 Expert list;Expert Review Amber Cytopenia - NOT Fanconi anaemia Haematology Unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure 31570891 False 2 100;0;0 4.32 False ENSG00000181163 ENSG00000181163 HGNC:7910 RAC2 gene RAC2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology Neutrophil immunodeficiency syndrome, 608203 False 2 0;100;0 4.32 False ENSG00000128340 ENSG00000128340 HGNC:9802 RPL18 gene RPL18 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 28280134 False 2 0;100;0 4.32 False ENSG00000063177 ENSG00000063177 HGNC:10310 RPL26 gene RPL26 Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Diamond-Blackfan anemia 11, OMIM:614900 22431104;39268718 False 2 50;33;17 4.32 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL31 gene RPL31 Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 25424902;25042156 False 2 50;50;0 4.32 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL9 gene RPL9 Expert Review Amber;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 23718193;20116044;29114930 False 2 50;25;25 4.32 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia 32790018 False 2 0;100;0 4.32 False ENSG00000008988 ENSG00000008988 HGNC:10405 RPS28 gene RPS28 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 24942156;20301769 False 2 0;100;0 4.32 False ENSG00000233927 ENSG00000233927 HGNC:10418 RUNX1 gene RUNX1 Expert review Amber;Expert Review Amber;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 Platelet disorder, familial, with associated myeloid malignancy, 601399 19357396;9746808 False 2 50;50;0 4.32 False ENSG00000159216 ENSG00000159216 HGNC:10471 SEC61A1 gene SEC61A1 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542;Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056 27392076;32325141 False 2 0;100;0 4.32 False ENSG00000058262 ENSG00000058262 HGNC:18276 SLC46A1 gene SLC46A1 Expert Review;Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;anemia;pancytopenia 21333572;17446347;29390264;11804211;17641272 False 2 100;0;0 4.32 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLFN14 gene SLFN14 Expert review Amber;Expert Review Amber;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 Bleeding disorder, platelet-type, 20, 616913 False 2 0;100;0 4.32 False ENSG00000236320 ENSG00000236320 HGNC:32689 SRP19 gene SRP19 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal severe congenital neutropenia, MONDO:0018542 36223592 False 2 0;100;0 4.32 False ENSG00000153037 ENSG00000153037 HGNC:11300 SRP72 gene SRP72 Expert Review Amber;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 Bone marrow failure syndrome 1, OMIM:614675;autosomal dominant aplasia and myelodysplasia, MONDO:0013851 22541560;29146883;32098966;31254415;40922878 False 2 33;67;0 4.32 False ENSG00000174780 ENSG00000174780 HGNC:11303 SRPRA gene SRPRA Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 36223592 False 2 0;100;0 4.32 False ENSG00000182934 ENSG00000182934 HGNC:11307 STIM1 gene STIM1 Expert review Amber;Expert Review Amber;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 Stormorken syndrome, 185070 25577287 False 2 50;50;0 4.32 False ENSG00000167323 ENSG00000167323 HGNC:11386 TCIRG1 gene TCIRG1 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 24753205;35573728 False 2 0;100;0 4.32 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert review Amber;Expert Review Amber;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 Transcobalamin II deficiency, 275350 False 2 0;100;0 4.32 False ENSG00000185339 ENSG00000185339 HGNC:11653 TSR2 gene TSR2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 24942156;20301769 False 2 0;100;0 4.32 False ENSG00000158526 ENSG00000158526 HGNC:25455 TUBA8 gene TUBA8 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840 34704371 False 2 0;100;0 4.32 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB1 gene TUBB1 Expert review Amber;Expert Review Amber;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 Macrothrombocytopenia, 613112 18849486 False 2 0;50;50 4.32 False ENSG00000101162 ENSG00000101162 HGNC:16257 ACTB gene ACTB Expert review Red;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Baraitser-Winter syndrome 1 with macrothrombocytopenia;Baraitser-Winter syndrome 1, 243310 False 1 0;0;100 4.32 False ENSG00000075624 ENSG00000075624 HGNC:132 ARPC1B gene ARPC1B Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718 False 1 0;0;100 4.32 False ENSG00000130429 ENSG00000130429 HGNC:704 CD40 gene CD40 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3, 606843 False 1 0;0;100 4.32 False ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert review Red;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM, 308230 False 1 0;0;100 4.32 False ENSG00000102245 ENSG00000102245 HGNC:11935 CDC42 gene CDC42 Expert review Red;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Takenouchi-Kosaki syndrome, 616737 False 1 0;0;100 4.32 False ENSG00000070831 ENSG00000070831 HGNC:1736 DIAPH1 gene DIAPH1 Expert review Red;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrothrombocytopenia and hearing loss;Deafness, autosomal dominant 1, 124900 False 1 0;0;100 4.32 False ENSG00000131504 ENSG00000131504 HGNC:2876 FCGR3B gene FCGR3B Expert Review Red;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology Other - please specify in evaluation comments Neutropenia,alloimmuneneonatal False 1 0;67;33 4.32 False ENSG00000162747 ENSG00000162747 HGNC:3620 FLNA gene FLNA Expert review Red;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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular, 1, OMIM:300049;Macrothrombocytopenia False 1 0;0;100 4.32 False ENSG00000196924 ENSG00000196924 HGNC:3754 GINS1 gene GINS1 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 55, 617827 False 1 0;0;100 4.32 False ENSG00000101003 ENSG00000101003 HGNC:28980 GNE gene GNE Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, 605820 False 1 0;0;100 4.32 False ENSG00000159921 ENSG00000159921 HGNC:23657 HOXA11 gene HOXA11 Expert review Red;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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 20091385;11101832 False 1 0;33;67 4.32 False ENSG00000005073 ENSG00000005073 HGNC:5101 HTRA2 gene HTRA2 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, 617248 False 1 0;0;100 4.32 False ENSG00000115317 ENSG00000115317 HGNC:14348 ITGA2B gene ITGA2B Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Glanzmann thrombasthenia, 273800 False 1 0;0;100 4.32 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Glanzmann thrombasthenia, 273800 False 1 0;0;100 4.32 False ENSG00000259207 ENSG00000259207 HGNC:6156 KDSR gene KDSR Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4, 617526 False 1 0;0;100 4.32 False ENSG00000119537 ENSG00000119537 HGNC:4021 LAMTOR2 gene LAMTOR2 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in MAPBP-interacting protein, 610798 False 1 0;0;100 4.32 False ENSG00000116586 ENSG00000116586 HGNC:29796 LIG4 gene LIG4 Expert Review Red;London South GLH;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593 20133615;16088910;11779494 False 1 50;50;0 4.32 False ENSG00000174405 ENSG00000174405 HGNC:6601 LYST gene LYST Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, 214500 False 1 0;0;100 4.32 False ENSG00000143669 ENSG00000143669 HGNC:1968 MPIG6B gene MPIG6B Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal 617441 Thrombocytopenia, anemia, and myelofibrosis;?Thrombocytopenia, anemia, and myelofibrosis1, 617441;?Thrombocytopenia, anemia, and myelofibrosis, 617441 27743390 False 1 0;50;50 4.32 False ENSG00000204420 ENSG00000204420 HGNC:13937 MSN gene MSN Expert review Red;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 50, 300988 False 1 0;0;100 4.32 False ENSG00000147065 ENSG00000147065 HGNC:7373 MTHFD1 gene MTHFD1 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 False 1 0;0;100 4.32 False ENSG00000100714 ENSG00000100714 HGNC:7432 POLR2C gene POLR2C Expert Review Red;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thrombocytopenia, MONDO:0002049 34794894;29367954 False 1 0;100;0 4.32 False ENSG00000102978 ENSG00000102978 HGNC:9189 PSMB8 gene PSMB8 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 False 1 0;0;100 4.32 False ENSG00000204264 ENSG00000204264 HGNC:9545 PTPN11 gene PTPN11 Expert review Red;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1, 163950 False 1 0;0;100 4.32 False ENSG00000179295 ENSG00000179295 HGNC:9644 RBM8A gene RBM8A Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related;615190 DC type 4 and 5;274000 Thrombocytopenia-absent radius syndrome 22366785;24220582;28128450;17236129 False 1 25;50;25 4.32 False ENSG00000131795 ENSG00000265241 HGNC:9905 RNU4ATAC gene RNU4ATAC Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Roifman syndrome, OMIM:616651 False 1 0;0;100 4.32 False ENSG00000264229 ENSG00000264229 HGNC:34016 RPS27 gene RPS27 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 17, OMIM:617409 23718193;25424902 False 1 50;50;0 4.32 False ENSG00000177954 ENSG00000177954 HGNC:10416 SLC37A4 gene SLC37A4 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240 9428641;9675154 False 1 50;0;50 4.32 False ENSG00000137700 ENSG00000137700 HGNC:4061 SMARCAL1 gene SMARCAL1 Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 17089404 False 1 50;0;50 4.32 False ENSG00000138375 ENSG00000138375 HGNC:11102 STK4 gene STK4 Expert review Red;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 Unknown T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 False 1 0;0;100 4.32 False ENSG00000101109 ENSG00000101109 HGNC:11408 TP53 gene TP53 Expert Review Red;NHS GMS;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 618165 Bone marrow failure syndrome 5 False 1 50;50;0 4.32 False ENSG00000141510 ENSG00000141510 HGNC:11998 TUBA4A gene TUBA4A Expert Review Red;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant macrothrombocytopenia, MONDO:0015372 30760556 False 1 0;0;100 4.32 False ENSG00000127824 ENSG00000127824 HGNC:12407 VPS13B gene VPS13B Expert review Red;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 BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550 False 1 0;0;100 4.32 False ENSG00000132549 ENSG00000132549 HGNC:2183 VWF gene VWF Expert review Red;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 von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554;von Willibrand disease, type 3, 277480;von Willebrand disease, type 1, 193400 False 1 0;0;100 4.32 False ENSG00000110799 ENSG00000110799 HGNC:12726