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 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 False ENSG00000110799 ENSG00000110799 HGNC:12726