GeneAssociated phenotypesInheritanceClinVarHGMD
ABCB7Anemia, sideroblastic, and spinocerebellar ataxiaXL89
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familialAR30183
AK1Adenylate kinase deficiency, hemolytic anemia due toAR810
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoieticXL27103
AMNMegaloblastic anemia-1, NorwegianAR2934
ANK1SpherocytosisAD/AR20105
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
ATRXCarpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndromeXL65165
BLMBloom syndromeAR152119
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
C15ORF41Congenital dyserythropoietic anemiaAR33
CDAN1Anemia, dyserythropoietic congenitalAR1261
CLCN7OsteopetrosisAD/AR1598
CUBN*Megaloblastic anemia-1, FinnishAR4253
CYB5R3Methemoglobinemia due to methemoglobin reductase deficiencyAR2171
DHFR*Megaloblastic anemia due to dihydrofolate reductase deficiencyAR25
DNAJC21Bone marrow failure syndrome 3AR511
DNASE2Primary immunodeficiency2
EFL1*Shwachman-Diamond syndrome32
EPB42SpherocytosisAR817
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
G6PDGlucose-6-phosphate dehydrogenase deficiencyXL45226
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GCLCGamma-glutamylcysteine synthetase deficiencyAR27
GPIHemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiencyAR1141
GSSGlutathione synthetase deficiencyAR838
HBA1*Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)AR/Digenic27214
HBA2#*Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)AR/Digenic44290
HBBSickle cell disease, Thalassemia-beta, dominant inclusion body, Other Thalassemias/Hemoglobinopathies, Beta-thalassemia, Hereditary persistence of fetal hemogoblinAD/AR/Digenic242865
HFEHemochromatosisAR/Digenic1156
KIF23Anemia, dyserythropoietic congenitalAD13
KLF1Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor, Hereditary persistence of fetal hemoglobinAD/BG1645
LPIN2Majeed syndromeAR1214
MTRMethylmalonic acidemiaAR1343
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NT5C3AUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due toAR1028
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PCPyruvate carboxylase deficiencyAR3241
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiencyXL66192
PDHXPyruvate dehydrogenase E3-binding protein deficiencyAR1422
PIEZO1Dehydrated hereditary stomatocytosis, Lympehedema, hereditary IIIAD/AR2360
PKLRPyruvate kinase deficiency, Elevation of red blood cell ATP levels, familialAD/AR17277
PUS1Mitochondrial myopathy and sideroblastic anemiaAR79
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RENHyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesisAD/AR918
RHAGOverhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood groupAD/AR/BG1328
RPL11Diamond-Blackfan anemiaAD1245
RPL15*Diamond-Blackfan anemiaAD22
RPL27Diamond-Blackfan anemia 1611
RPL31Diamond-Blackfan anemiaAD2
RPL35ADiamond-Blackfan anemiaAD714
RPL5Diamond-Blackfan anemiaAD1977
RPS10Diamond-Blackfan anemiaAD35
RPS19Diamond-Blackfan anemiaAD23172
RPS24Diamond-Blackfan anemiaAD610
RPS26Diamond-Blackfan anemiaAD1033
RPS28Diamond-Blackfan anemia 15 with mandibulofacial dysostosisAD11
RPS29Diamond-Blackfan anemiaAD44
RPS7Diamond-Blackfan anemiaAD210
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SEC23BAnemia, dyserythropoietic congenitalAR18121
SLC11A2Anemia, hypochromic microcytic, with iron overloadAR510
SLC19A2Thiamine-responsive megaloblastic anemia syndromeAR1451
SLC25A38Anemia, sideroblastic 2, pyridoxine-refractoryAR727
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SLX4Fanconi anemiaAR1872
SPTA1Spherocytosis, Ellipsocytosis, PyropoikilocytosisAD/AR2951
SPTBSpherocytosis, Anemia, neonatal hemolytic, EllipsocytosisAD/AR2499
SRP54Shwachman-Diamond syndromeAD3
TCN2Transcobalamin II deficiencyAR935
TFAtransferrinemiaAR817
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
TMPRSS6Iron-refractory iron deficiency anemiaAR13102
TPI1Triosephosphate isomerase deficiencyAR819
XRCC2Hereditary breast cancerAD/AR1021
YARS2Myopathy, lactic acidosis, and sideroblastic anemiaAR2711
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCG5SitosterolemiaAR1342
ABCG8SitosterolemiaAR1844
ACTN1Bleeding disorder, platelet-AD725
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familialAR30183
ANKRD26ThrombocytopeniaAD621
AP3B1Hermansky-Pudlak syndromeAR1434
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
CYCS*ThrombocytopeniaAD23
DTNBP1Hermansky-Pudlak syndromeAR23
EFL1*Shwachman-Diamond syndrome32
ETV6Thrombocytopenia 5AD1038
F10Factor X deficiencyAR15155
F11Factor XI deficiencyAD/AR77271
F12Angioedema, Factor XII deficiencyAD/AR753
F13A1Factor XIIIA deficiencyAR20180
F2Thrombophilia due to thrombin defect, Prothrombin deficiency, congenitalAD/AR1466
F5Factor V deficiency, Thrombophilia due to activated protein C resistanceAD/AR19157
F7Factor VII deficiencyAR27322
F8*Hemophilia AXL2963205
F9Hemophilia B, Warfarin sensitivity, Thrombophilia, due to factor IX defectXL1171281
FGAAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital, Familial visceral amyloidosisAD/AR10144
FGBAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR692
FGGAfibrinogenemia, congenital, Hypodysfibrinogenemia, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR7127
FLI1Thrombocytopenia, Paris-Trousseau type, Bleeding disorder, platelet type 21AD77
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FYBThrombocytopenia 3AR22
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GBA*Gaucher diseaseAR84488
GFI1BBleeding disorder, platelet-type, 17AD69
GGCXPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiencyAD/AR/Digenic1342
GP1BAPseudo-von Willebrand disease, Bernard-Soulier syndromeAD/AR973
GP1BBGiant platelet disorder, isolated, Bernard-Soulier syndromeAD/AR553
GP9Bernard-Soulier syndromeAR642
HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopeniaAD11
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
ITGA2Fetal and neonatal alloimmune thrombocytopeniaAD/AR5
ITGA2BGlanzmann thrombastheniaAD/AR22234
ITGB3Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, Glanzmann thrombastheniaAD/AR18165
LMAN1Combined factor V and VIII deficiencyAR537
MASTLThrombocytopeniaAD5
MCFD2Factor V & Factor VIII, combined deficiency ofAR820
MECOMRadioulnar synostosis with amegakaryocytic thrombocytopenia 2AD327
MPLThrombocythemia, Amegakaryocytic thrombocytopeniaAD/AR2355
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
NBEAL2Gray platelet syndromeAR1051
P2RY12Bleeding disorder, platelet-AD/AR413
PRKACGBleeding disorder, platelet-type, 19AR11
PROCThrombophilia, hereditaryAD/AR36387
PROS1*Thrombophilia, hereditaryAD/AR23416
RASGRP2Bleeding disorder, platelet-type, 18AR320
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SERPINC1Antithrombin III deficiencyAD/AR44412
SERPINF2Alpha-2-plasmin inhibitor deficiencyAD/AR48
SLFN14ThrombocytopeniaAD/AR44
SRCThrombocytopenia, autosomal dominant, 6AD21
SRP54Shwachman-Diamond syndromeAD3
TBXA2RBleeding disorder, platelet-AD16
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
THPOThrombocythemia 1AD510
TUBB1MacrothrombocytopeniaAD27
VKORC1#Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiencyAD/AR427
VWF*Von Willebrand diseaseAD/AR571009
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WIPF1Wiskott-Aldrich syndrome 2AR23
GeneAssociated phenotypesInheritanceClinVarHGMD
BLMBloom syndromeAR152119
GeneAssociated phenotypesInheritanceClinVarHGMD
ACDDyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7AD/AR28
ACTB*Baraitser-Winter syndromeAD5560
AK2Reticular dysgenesisAR1417
ANKRD26ThrombocytopeniaAD621
AP3B1Hermansky-Pudlak syndromeAR1434
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
BLMBloom syndromeAR152119
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
BRCA1*Pancreatic cancer, Breast-ovarian cancer, familialAD29972631
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndromeAD87232
CEBPAAcute myeloid leukemia, familialAD1513
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF3RNeutrophilia, hereditaryAD1313
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
DDX41Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility toAD921
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAJC21Bone marrow failure syndrome 3AR511
DNASE2Primary immunodeficiency2
DTNBP1Hermansky-Pudlak syndromeAR23
EFL1*Shwachman-Diamond syndrome32
ELANENeutropeniaAD43217
EPCAMDiarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposisAD/AR3880
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC6L2Bone marrow failure syndrome 2AR49
ETV6Thrombocytopenia 5AD1038
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GINS1ImmunodeficiencyAR44
HAX1Neutropenia, severe congenitalAR1121
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IFNGR2ImmunodeficiencyAR418
IKZF1Immunodeficiency, common variable, 13AD1035
ITKLymphoproliferative syndromeAR411
JAGN1Neutropenia, severe congenitalAR88
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MKL1Primary immunodeficiencyAR4
MLH1Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR8731191
MPLThrombocythemia, Amegakaryocytic thrombocytopeniaAD/AR2355
MSH2Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndromeAD/AR9331249
MSH6Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR672586
MYO5AGriscelli syndromeAR79
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
NRASNoonan syndromeAD3114
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PAX5Pre-B cell acute lymphoblastic leukemiaAD7
PGM3Immunodeficiency 23AR1415
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
PTPN11Noonan syndrome, MetachondromatosisAD135140
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RAC2Neutrophil immunodeficiency syndromeAD23
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RIT1Noonan syndromeAD2326
RPL11Diamond-Blackfan anemiaAD1245
RPL15*Diamond-Blackfan anemiaAD22
RPL27Diamond-Blackfan anemia 1611
RPL31Diamond-Blackfan anemiaAD2
RPL35ADiamond-Blackfan anemiaAD714
RPL5Diamond-Blackfan anemiaAD1977
RPS10Diamond-Blackfan anemiaAD35
RPS19Diamond-Blackfan anemiaAD23172
RPS24Diamond-Blackfan anemiaAD610
RPS26Diamond-Blackfan anemiaAD1033
RPS28Diamond-Blackfan anemia 15 with mandibulofacial dysostosisAD11
RPS29Diamond-Blackfan anemiaAD44
RPS7Diamond-Blackfan anemiaAD210
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SH2D1ALymphoproliferative syndromeXL21129
SLC37A4Glycogen storage diseaseAR49113
SLX4Fanconi anemiaAR1872
SMARCD2Specific granule defiency 2AR31
SOS1Noonan syndromeAD4471
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
THPOThrombocythemia 1AD510
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TP53Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphomaAD393505
UBE2TFanconi anemia, complementation group TAR27
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
USB1Poikiloderma with neutropeniaAR2422
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
WIPF1Wiskott-Aldrich syndrome 2AR23
WRAP53Dyskeratosis congenitaAR76
XIAP*Lymphoproliferative syndromeXL1496
XRCC2Hereditary breast cancerAD/AR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
F10Factor X deficiencyAR15155
F11Factor XI deficiencyAD/AR77271
F12Angioedema, Factor XII deficiencyAD/AR753
F13A1Factor XIIIA deficiencyAR20180
F2Thrombophilia due to thrombin defect, Prothrombin deficiency, congenitalAD/AR1466
F5Factor V deficiency, Thrombophilia due to activated protein C resistanceAD/AR19157
F7Factor VII deficiencyAR27322
F8*Hemophilia AXL2963205
F9Hemophilia B, Warfarin sensitivity, Thrombophilia, due to factor IX defectXL1171281
FGAAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital, Familial visceral amyloidosisAD/AR10144
FGBAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR692
FGGAfibrinogenemia, congenital, Hypodysfibrinogenemia, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR7127
GGCXPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiencyAD/AR/Digenic1342
LMAN1Combined factor V and VIII deficiencyAR537
VKORC1#Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiencyAD/AR427
VWF*Von Willebrand diseaseAD/AR571009
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
ABCB7Anemia, sideroblastic, and spinocerebellar ataxiaXL89
ABCG5SitosterolemiaAR1342
ABCG8SitosterolemiaAR1844
ACDDyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7AD/AR28
ACTB*Baraitser-Winter syndromeAD5560
ACTN1Bleeding disorder, platelet-AD725
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familialAR30183
AIPPituitary adenoma, familial isolatedAD53110
AK1Adenylate kinase deficiency, hemolytic anemia due toAR810
AK2Reticular dysgenesisAR1417
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoieticXL27103
ALKNeuroblastomaAD3115
AMNMegaloblastic anemia-1, NorwegianAR2934
ANK1SpherocytosisAD/AR20105
ANKRD26ThrombocytopeniaAD621
AP3B1Hermansky-Pudlak syndromeAR1434
AP3D1Hermansky-Pudlak syndrome 10AR14
APCGardner syndrome, Desmoid disease, hereditary, Familial adenomatous polyposisAD7731926
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
ATRXCarpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndromeXL65165
AXIN2Oligodontia-colorectal cancer syndrome, Oligondontia, isolatedAD1918
BAP1Tumor predisposition syndromeAD74113
BARD1Breast cancerAD159114
BLMBloom syndromeAR152119
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
BMPR1A*Polyposis, juvenile intestinalAD110140
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
BRCA1*Pancreatic cancer, Breast-ovarian cancer, familialAD29972631
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
BUB1BMosaic variegated aneuploidy syndrome, Premature chromatid separation traitAD/AR1428
C15ORF41Congenital dyserythropoietic anemiaAR33
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CD70Primary immunodeficiencyAR4
CDAN1Anemia, dyserythropoietic congenitalAR1261
CDC42*Takenouchi-Kosaki syndrome, Noonan-syndrome like phenotypeAD119
CDC73Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndromeAD50101
CDH1CDH1-related cancer, Blepharocheilodontic syndrome 1AD178242
CDK4Melanoma, cutaneous malignantAD414
CDKN1BMultiple endocrine neoplasiaAD1320
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndromeAD87232
CEBPAAcute myeloid leukemia, familialAD1513
CEP57Mosaic variegated aneuploidy syndromeAR55
CHEK2*Li-Fraumeni syndromeAD/AR275197
CLCN7OsteopetrosisAD/AR1598
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF3RNeutrophilia, hereditaryAD1313
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CUBN*Megaloblastic anemia-1, FinnishAR4253
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
CYB5R3Methemoglobinemia due to methemoglobin reductase deficiencyAR2171
CYCS*ThrombocytopeniaAD23
CYLDSpiegler-Brooke syndrome, Trichoepithelioma, multiple, CylindromatosisAD34106
DDB2Xeroderma pigmentosumAR417
DDX41Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility toAD921
DHFR*Megaloblastic anemia due to dihydrofolate reductase deficiencyAR25
DICER1*DICER1 syndromeAD197137
DIS3L2*Perlman syndromeAR1214
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAJC21Bone marrow failure syndrome 3AR511
DNASE2Primary immunodeficiency2
DTNBP1Hermansky-Pudlak syndromeAR23
EFL1*Shwachman-Diamond syndrome32
EGFRLung cancer, familial, susceptibilty to, Inflammatory skin and bowel disease, neonatal, Acute myeloid leukemia, familialAD/AR5518
EGLN1*Hemoglobin, high altitude adapationAD364
ELANENeutropeniaAD43217
EPAS1Erthyrocytosis, familial 4AD330
EPB41Ellipsocytosis 1AR612
EPB42SpherocytosisAR817
EPCAMDiarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposisAD/AR3880
EPORErythrocytosis, familial, 1AD432
ERCC1Cerebrooculofacioskeletal syndrome 4AR85
ERCC2Xeroderma pigmentosum, Trichothiodystrophy, photosensitive, Cerebrooculofacioskeletal syndrome 2AR2698
ERCC3Xeroderma pigmentosum, Trichothiodystrophy, photosensitiveAR1019
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC5Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndromeAR2154
ERCC6L2Bone marrow failure syndrome 2AR49
ETV6Thrombocytopenia 5AD1038
EXO1Lynch syndromeAD/AR114
EXT1Multiple cartilagenious exostoses 1AD97523
EXT2Multiple cartilagenious exostoses 2AD45250
EZH2Weaver syndromeAD2941
F10Factor X deficiencyAR15155
F11Factor XI deficiencyAD/AR77271
F12Angioedema, Factor XII deficiencyAD/AR753
F13A1Factor XIIIA deficiencyAR20180
F13BFactor XIIIB deficiencyAR418
F2Thrombophilia due to thrombin defect, Prothrombin deficiency, congenitalAD/AR1466
F5Factor V deficiency, Thrombophilia due to activated protein C resistanceAD/AR19157
F7Factor VII deficiencyAR27322
F8*Hemophilia AXL2963205
F9Hemophilia B, Warfarin sensitivity, Thrombophilia, due to factor IX defectXL1171281
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FAM111B*Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis, Lung cancer, familial, susceptibilty toAD77
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
FGAAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital, Familial visceral amyloidosisAD/AR10144
FGBAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR692
FGGAfibrinogenemia, congenital, Hypodysfibrinogenemia, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR7127
FHHereditary leiomyomatosis and renal cell cancerAD/AR178207
FLCNBirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneousAD154210
FLI1Thrombocytopenia, Paris-Trousseau type, Bleeding disorder, platelet type 21AD77
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FYBThrombocytopenia 3AR22
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
G6PDGlucose-6-phosphate dehydrogenase deficiencyXL45226
GALNT12Colorectal cancer, susceptibility to, 1, Inflammatory bowel diseaseAD8
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GBA*Gaucher diseaseAR84488
GCLCGamma-glutamylcysteine synthetase deficiencyAR27
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GFI1BBleeding disorder, platelet-type, 17AD69
GGCXPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiencyAD/AR/Digenic1342
GINS1ImmunodeficiencyAR44
GP1BAPseudo-von Willebrand disease, Bernard-Soulier syndromeAD/AR973
GP1BBGiant platelet disorder, isolated, Bernard-Soulier syndromeAD/AR553
GP9Bernard-Soulier syndromeAR642
GPC3Simpson-Golabi-Behmel syndromeXL3375
GPIHemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiencyAR1141
GPR143Nystagmus, congenital, Ocular albinismXL22181
GREM1Hereditary mixed polyposis syndromeAD/AR18
GSSGlutathione synthetase deficiencyAR838
HAX1Neutropenia, severe congenitalAR1121
HBA1*Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)AR/Digenic27214
HBA2#*Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)AR/Digenic44290
HBBSickle cell disease, Thalassemia-beta, dominant inclusion body, Other Thalassemias/Hemoglobinopathies, Beta-thalassemia, Hereditary persistence of fetal hemogoblinAD/AR/Digenic242865
HFEHemochromatosisAR/Digenic1156
HNF1AMaturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell, Liver adenomatosisAD78528
HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopeniaAD11
HOXB13Familial prostate cancerAD/AR15
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IFNGR2ImmunodeficiencyAR418
IKZF1Immunodeficiency, common variable, 13AD1035
ITGA2Fetal and neonatal alloimmune thrombocytopeniaAD/AR5
ITGA2BGlanzmann thrombastheniaAD/AR22234
ITGB3Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, Glanzmann thrombastheniaAD/AR18165
ITKLymphoproliferative syndromeAR411
JAGN1Neutropenia, severe congenitalAR88
JAK2Thrombocythemia 3AD1222
KIF23Anemia, dyserythropoietic congenitalAD13
KITGastrointestinal stromal tumor, PiebaldismAD79116
KITLGHyperpigmentation with or without hypopigementation, familial progressive, Skin/hair/eye pigmentation, variation in, 7AD610
KLF1Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor, Hereditary persistence of fetal hemoglobinAD/BG1645
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LMAN1Combined factor V and VIII deficiencyAR537
LPIN2Majeed syndromeAR1214
LYSTChediak-Higashi syndromeAR5097
LZTR1Schwannomatosis, Noonan syndromeAD/AR3471
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MASTLThrombocytopeniaAD5
MAXPheochromocytomaAD1331
MCFD2Factor V & Factor VIII, combined deficiency ofAR820
MECOMRadioulnar synostosis with amegakaryocytic thrombocytopenia 2AD327
MEN1Hyperparathyroidism, familial primary, Multiple endocrine neoplasiaAD263730
METDeafness, Renal cell carcinoma, papillary, Osteofibrous dysplasia, susceptibility toAD/AR2034
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
MKL1Primary immunodeficiencyAR4
MLH1Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR8731191
MLH3Colorectal cancer, hereditary nonpolyposis, Endometrial carcinomaAD/AR731
MPLThrombocythemia, Amegakaryocytic thrombocytopeniaAD/AR2355
MRE11AAtaxia-telangiectasia-like disorder-1AR5756
MSH2Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndromeAD/AR9331249
MSH3Endometrial carcinoma, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomasAD422
MSH6Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR672586
MTHFD1Severe combined immunodeficiencyAR911
MTRMethylmalonic acidemiaAR1343
MUTYHFamilial adenomatous polyposis,, Colorectal adenomatous polyposis, with pilomatricomasAR134168
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
MYO5AGriscelli syndromeAR79
NBEAL2Gray platelet syndromeAR1051
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NF2Schwannomatosis, NeurofibromatosisAD66433
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
NRASNoonan syndromeAD3114
NSD1Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndromeAD329517
NSUN2Dubowitz syndrome, Non-syndromic intellectual disabilityAD/AR87
NT5C3AUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due toAR1028
NTHL1Familial adenomatous polyposis 3AR73
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
P2RY12Bleeding disorder, platelet-AD/AR413
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
PAX5Pre-B cell acute lymphoblastic leukemiaAD7
PCPyruvate carboxylase deficiencyAR3241
PDGFRA#Gastrointestinal stromal tumorAD2219
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiencyXL66192
PDHXPyruvate dehydrogenase E3-binding protein deficiencyAR1422
PGM3Immunodeficiency 23AR1415
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma, susceptiblity to, Neuroblastoma with Hirschsprung diseaseAD1186
PIEZO1Dehydrated hereditary stomatocytosis, Lympehedema, hereditary IIIAD/AR2360
PKLRPyruvate kinase deficiency, Elevation of red blood cell ATP levels, familialAD/AR17277
PMS1#Hereditary nonpolyposis colon cancerAD/AR132
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
POLD1Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, ImmunodeficiencyAD/AR331
POLEColorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)AD/AR870
POLH*Xeroderma pigmentosum, variant typeAR2078
POT1Glioma susceptibility 9, Melanoma, cutaneous malignant, susceptibility to 10AD234
PPM1DHereditary breast cancerAD1660
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
PRKACGBleeding disorder, platelet-type, 19AR11
PRKAR1AMyxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complexAD75183
PROCThrombophilia, hereditaryAD/AR36387
PROS1*Thrombophilia, hereditaryAD/AR23416
PTCH1Basal cell nevus syndromeAD193522
PTEN*Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndromeAD435638
PTPN11Noonan syndrome, MetachondromatosisAD135140
PUS1Mitochondrial myopathy and sideroblastic anemiaAR79
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RAC2Neutrophil immunodeficiency syndromeAD23
RAD50Breast cancer, Nijmegen breakage syndrome-like disorderAD/AR18388
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RAD51DOvarian cancer, familialAD7778
RAF1LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)AD4553
RASA2Noonan syndromeAD13
RASGRP2Bleeding disorder, platelet-type, 18AR320
RB1RetinoblastomaAD2661102
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RECQL*Breast cancerAD927
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RENHyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesisAD/AR918
RESTFibromatosis, gingival, 5AD316
RETHirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasiaAD/AR122407
RHAGOverhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood groupAD/AR/BG1328
RHBDF2Tylosis with esophageal cancerAD24
RIT1Noonan syndromeAD2326
RNF168RIDDLE syndromeAR45
RPL11Diamond-Blackfan anemiaAD1245
RPL15*Diamond-Blackfan anemiaAD22
RPL27Diamond-Blackfan anemia 1611
RPL31Diamond-Blackfan anemiaAD2
RPL35ADiamond-Blackfan anemiaAD714
RPL5Diamond-Blackfan anemiaAD1977
RPS10Diamond-Blackfan anemiaAD35
RPS19Diamond-Blackfan anemiaAD23172
RPS20Colorectal cancerAD1
RPS24Diamond-Blackfan anemiaAD610
RPS26Diamond-Blackfan anemiaAD1033
RPS28Diamond-Blackfan anemia 15 with mandibulofacial dysostosisAD11
RPS29Diamond-Blackfan anemiaAD44
RPS7Diamond-Blackfan anemiaAD210
RRASNoonan-syndrome like phenotypeAD/AR2
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SDHA*Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM), Cardiomyopathy, dilated, 1GGAD/AR5487
SDHAF2ParagangliomasAD45
SDHBParaganglioma and gastric stromal sarcoma, Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas, Cowden-like syndromeAD151272
SDHCParaganglioma and gastric stromal sarcoma, Gastrointestinal stromal tumor, ParagangliomasAD2960
SDHD#Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas, Carcinoid tumors, intestinal, Cowden syndrome, Mitochondrial complex II deficiencyAD68170
SEC23BAnemia, dyserythropoietic congenitalAR18121
SERPINC1Antithrombin III deficiencyAD/AR44412
SERPINF2Alpha-2-plasmin inhibitor deficiencyAD/AR48
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SH2D1ALymphoproliferative syndromeXL21129
SHOC2Noonan-like syndrome with loose anagen hairAD24
SLC11A2Anemia, hypochromic microcytic, with iron overloadAR510
SLC19A2Thiamine-responsive megaloblastic anemia syndromeAR1451
SLC25A38Anemia, sideroblastic 2, pyridoxine-refractoryAR727
SLC37A4Glycogen storage diseaseAR49113
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
SLC46A1Folate malabsorptionAR1723
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SLFN14ThrombocytopeniaAD/AR44
SLX4Fanconi anemiaAR1872
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMARCA4Rhabdoid tumor predisposition syndromeAD7657
SMARCB1Schwannomatosis, Rhabdoid tumor predisposition syndrome, Coffin-Siris syndrome 3AD36118
SMARCD2Specific granule defiency 2AR31
SOS1Noonan syndromeAD4471
SOS2Noonan syndrome 9AD46
SPRED1Legius syndromeAD3871
SPTA1Spherocytosis, Ellipsocytosis, PyropoikilocytosisAD/AR2951
SPTBSpherocytosis, Anemia, neonatal hemolytic, EllipsocytosisAD/AR2499
SRCThrombocytopenia, autosomal dominant, 6AD21
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
STK11Peutz-Jeghers syndromeAD173460
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
SUFUMedulloblastoma, Basal cell nevus syndromeAD2244
TBXA2RBleeding disorder, platelet-AD16
TCN2Transcobalamin II deficiencyAR935
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TFAtransferrinemiaAR817
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
THPOThrombocythemia 1AD510
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TMEM127PheochromocytomaAD3052
TMPRSS6Iron-refractory iron deficiency anemiaAR13102
TP53Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphomaAD393505
TPI1Triosephosphate isomerase deficiencyAR819
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayAR1326
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD177372
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD3961195
TUBB1MacrothrombocytopeniaAD27
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
UBE2TFanconi anemia, complementation group TAR27
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
USB1Poikiloderma with neutropeniaAR2422
VHLErythrocytosis, familial, PheochromocytomaAD/AR206614
VKORC1#Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiencyAD/AR427
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
VWF*Von Willebrand diseaseAD/AR571009
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
WIPF1Wiskott-Aldrich syndrome 2AR23
WRAP53Dyskeratosis congenitaAR76
WRN*Werner syndromeAR64107
WT1Denys-Drash syndrome, Frasier syndrome, Wilms tumor, Nephrotic syndrome, type 4AD42183
XIAP*Lymphoproliferative syndromeXL1496
XPAXeroderma pigmentosumAR4947
XPCXeroderma pigmentosumAR6791
XRCC2Hereditary breast cancerAD/AR1021
YARS2Myopathy, lactic acidosis, and sideroblastic anemiaAR2711
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
ABCB7Anemia, sideroblastic, and spinocerebellar ataxiaXL89
ABCG5SitosterolemiaAR1342
ABCG8SitosterolemiaAR1844
ACDDyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7AD/AR28
ACTB*Baraitser-Winter syndromeAD5560
ACTN1Bleeding disorder, platelet-AD725
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familialAR30183
AK1Adenylate kinase deficiency, hemolytic anemia due toAR810
AK2Reticular dysgenesisAR1417
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoieticXL27103
AMNMegaloblastic anemia-1, NorwegianAR2934
ANK1SpherocytosisAD/AR20105
ANKRD26ThrombocytopeniaAD621
AP3B1Hermansky-Pudlak syndromeAR1434
AP3D1Hermansky-Pudlak syndrome 10AR14
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
ATRXCarpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndromeXL65165
BLMBloom syndromeAR152119
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
BRCA1*Pancreatic cancer, Breast-ovarian cancer, familialAD29972631
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
C15ORF41Congenital dyserythropoietic anemiaAR33
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CDAN1Anemia, dyserythropoietic congenitalAR1261
CDC42*Takenouchi-Kosaki syndrome, Noonan-syndrome like phenotypeAD119
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndromeAD87232
CEBPAAcute myeloid leukemia, familialAD1513
CLCN7OsteopetrosisAD/AR1598
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF3RNeutrophilia, hereditaryAD1313
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
CUBN*Megaloblastic anemia-1, FinnishAR4253
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
CYB5R3Methemoglobinemia due to methemoglobin reductase deficiencyAR2171
CYCS*ThrombocytopeniaAD23
DDX41Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility toAD921
DHFR*Megaloblastic anemia due to dihydrofolate reductase deficiencyAR25
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DNAJC21Bone marrow failure syndrome 3AR511
DNASE2Primary immunodeficiency2
DTNBP1Hermansky-Pudlak syndromeAR23
EFL1*Shwachman-Diamond syndrome32
EGLN1*Hemoglobin, high altitude adapationAD364
ELANENeutropeniaAD43217
EPAS1Erthyrocytosis, familial 4AD330
EPB41Ellipsocytosis 1AR612
EPB42SpherocytosisAR817
EPCAMDiarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposisAD/AR3880
EPORErythrocytosis, familial, 1AD432
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC6L2Bone marrow failure syndrome 2AR49
ETV6Thrombocytopenia 5AD1038
F10Factor X deficiencyAR15155
F11Factor XI deficiencyAD/AR77271
F12Angioedema, Factor XII deficiencyAD/AR753
F13A1Factor XIIIA deficiencyAR20180
F13BFactor XIIIB deficiencyAR418
F2Thrombophilia due to thrombin defect, Prothrombin deficiency, congenitalAD/AR1466
F5Factor V deficiency, Thrombophilia due to activated protein C resistanceAD/AR19157
F7Factor VII deficiencyAR27322
F8*Hemophilia AXL2963205
F9Hemophilia B, Warfarin sensitivity, Thrombophilia, due to factor IX defectXL1171281
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
FGAAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenital, Familial visceral amyloidosisAD/AR10144
FGBAfibrinogenemia, congenital, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR692
FGGAfibrinogenemia, congenital, Hypodysfibrinogenemia, Dysfibrinogenemia, congenital, Hypodysfibrinogenemia, congenitalAD/AR7127
FLI1Thrombocytopenia, Paris-Trousseau type, Bleeding disorder, platelet type 21AD77
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FYBThrombocytopenia 3AR22
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
G6PDGlucose-6-phosphate dehydrogenase deficiencyXL45226
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GBA*Gaucher diseaseAR84488
GCLCGamma-glutamylcysteine synthetase deficiencyAR27
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GFI1BBleeding disorder, platelet-type, 17AD69
GGCXPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Vitamin K-dependent clotting factors, combined deficiencyAD/AR/Digenic1342
GINS1ImmunodeficiencyAR44
GP1BAPseudo-von Willebrand disease, Bernard-Soulier syndromeAD/AR973
GP1BBGiant platelet disorder, isolated, Bernard-Soulier syndromeAD/AR553
GP9Bernard-Soulier syndromeAR642
GPIHemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiencyAR1141
GPR143Nystagmus, congenital, Ocular albinismXL22181
GSSGlutathione synthetase deficiencyAR838
HAX1Neutropenia, severe congenitalAR1121
HBA1*Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)AR/Digenic27214
HBA2#*Alpha-thalassemia (Hemoglobin Bart syndrome), Alpha-thalassemia (Hemoglobin H disease)AR/Digenic44290
HBBSickle cell disease, Thalassemia-beta, dominant inclusion body, Other Thalassemias/Hemoglobinopathies, Beta-thalassemia, Hereditary persistence of fetal hemogoblinAD/AR/Digenic242865
HFEHemochromatosisAR/Digenic1156
HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopeniaAD11
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IFNGR2ImmunodeficiencyAR418
IKZF1Immunodeficiency, common variable, 13AD1035
ITGA2Fetal and neonatal alloimmune thrombocytopeniaAD/AR5
ITGA2BGlanzmann thrombastheniaAD/AR22234
ITGB3Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, Glanzmann thrombastheniaAD/AR18165
ITKLymphoproliferative syndromeAR411
JAGN1Neutropenia, severe congenitalAR88
JAK2Thrombocythemia 3AD1222
KIF23Anemia, dyserythropoietic congenitalAD13
KLF1Anemia, dyserythropoietic congenital, Blood group, Lutheran inhibitor, Hereditary persistence of fetal hemoglobinAD/BG1645
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LMAN1Combined factor V and VIII deficiencyAR537
LPIN2Majeed syndromeAR1214
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MASTLThrombocytopeniaAD5
MCFD2Factor V & Factor VIII, combined deficiency ofAR820
MECOMRadioulnar synostosis with amegakaryocytic thrombocytopenia 2AD327
MKL1Primary immunodeficiencyAR4
MLH1Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR8731191
MPLThrombocythemia, Amegakaryocytic thrombocytopeniaAD/AR2355
MSH2Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndromeAD/AR9331249
MSH6Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR672586
MTHFD1Severe combined immunodeficiencyAR911
MTRMethylmalonic acidemiaAR1343
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
MYO5AGriscelli syndromeAR79
NBEAL2Gray platelet syndromeAR1051
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
NRASNoonan syndromeAD3114
NT5C3AUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due toAR1028
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
P2RY12Bleeding disorder, platelet-AD/AR413
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
PAX5Pre-B cell acute lymphoblastic leukemiaAD7
PCPyruvate carboxylase deficiencyAR3241
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiencyXL66192
PDHXPyruvate dehydrogenase E3-binding protein deficiencyAR1422
PGM3Immunodeficiency 23AR1415
PIEZO1Dehydrated hereditary stomatocytosis, Lympehedema, hereditary IIIAD/AR2360
PKLRPyruvate kinase deficiency, Elevation of red blood cell ATP levels, familialAD/AR17277
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
PRKACGBleeding disorder, platelet-type, 19AR11
PROCThrombophilia, hereditaryAD/AR36387
PROS1*Thrombophilia, hereditaryAD/AR23416
PTPN11Noonan syndrome, MetachondromatosisAD135140
PUS1Mitochondrial myopathy and sideroblastic anemiaAR79
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RAC2Neutrophil immunodeficiency syndromeAD23
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
RASGRP2Bleeding disorder, platelet-type, 18AR320
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
RENHyperuricemic nephropathy, Hyperproreninemia, familial, Renal tubular dysgenesisAD/AR918
RHAGOverhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood groupAD/AR/BG1328
RIT1Noonan syndromeAD2326
RNF168RIDDLE syndromeAR45
RPL11Diamond-Blackfan anemiaAD1245
RPL15*Diamond-Blackfan anemiaAD22
RPL27Diamond-Blackfan anemia 1611
RPL31Diamond-Blackfan anemiaAD2
RPL35ADiamond-Blackfan anemiaAD714
RPL5Diamond-Blackfan anemiaAD1977
RPS10Diamond-Blackfan anemiaAD35
RPS19Diamond-Blackfan anemiaAD23172
RPS24Diamond-Blackfan anemiaAD610
RPS26Diamond-Blackfan anemiaAD1033
RPS28Diamond-Blackfan anemia 15 with mandibulofacial dysostosisAD11
RPS29Diamond-Blackfan anemiaAD44
RPS7Diamond-Blackfan anemiaAD210
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SEC23BAnemia, dyserythropoietic congenitalAR18121
SERPINC1Antithrombin III deficiencyAD/AR44412
SERPINF2Alpha-2-plasmin inhibitor deficiencyAD/AR48
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SH2D1ALymphoproliferative syndromeXL21129
SLC11A2Anemia, hypochromic microcytic, with iron overloadAR510
SLC19A2Thiamine-responsive megaloblastic anemia syndromeAR1451
SLC25A38Anemia, sideroblastic 2, pyridoxine-refractoryAR727
SLC37A4Glycogen storage diseaseAR49113
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
SLC46A1Folate malabsorptionAR1723
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SLFN14ThrombocytopeniaAD/AR44
SLX4Fanconi anemiaAR1872
SMARCD2Specific granule defiency 2AR31
SOS1Noonan syndromeAD4471
SPTA1Spherocytosis, Ellipsocytosis, PyropoikilocytosisAD/AR2951
SPTBSpherocytosis, Anemia, neonatal hemolytic, EllipsocytosisAD/AR2499
SRCThrombocytopenia, autosomal dominant, 6AD21
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
TBXA2RBleeding disorder, platelet-AD16
TCN2Transcobalamin II deficiencyAR935
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TFAtransferrinemiaAR817
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
THPOThrombocythemia 1AD510
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TMPRSS6Iron-refractory iron deficiency anemiaAR13102
TP53Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphomaAD393505
TPI1Triosephosphate isomerase deficiencyAR819
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayAR1326
TUBB1MacrothrombocytopeniaAD27
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
UBE2TFanconi anemia, complementation group TAR27
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
USB1Poikiloderma with neutropeniaAR2422
VKORC1#Drug metabolism, VKORC1-related, Vitamin K-dependent clotting factors, combined deficiencyAD/AR427
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
VWF*Von Willebrand diseaseAD/AR571009
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
WIPF1Wiskott-Aldrich syndrome 2AR23
WRAP53Dyskeratosis congenitaAR76
XIAP*Lymphoproliferative syndromeXL1496
XRCC2Hereditary breast cancerAD/AR1021
YARS2Myopathy, lactic acidosis, and sideroblastic anemiaAR2711
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTB*Baraitser-Winter syndromeAD5560
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AR2625
CSF2RA#*Surfactant metabolism dysfunction, pulmonaryXL217
CSF3RNeutrophilia, hereditaryAD1313
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1992
EFL1*Shwachman-Diamond syndrome32
ELANENeutropeniaAD43217
G6PC3Neutropenia, severe congenital, Dursun syndromeAR1137
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
GFI1Neutropenia, severe congenital, 2 autosomal dominant, Neutropenia, nonimmune chronic idiopathic, of adultsAD26
GINS1ImmunodeficiencyAR44
HAX1Neutropenia, severe congenitalAR1121
IFNGR2ImmunodeficiencyAR418
JAGN1Neutropenia, severe congenitalAR88
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAR11
LYSTChediak-Higashi syndromeAR5097
MKL1Primary immunodeficiencyAR4
PGM3Immunodeficiency 23AR1415
RAC2Neutrophil immunodeficiency syndromeAD23
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SLC37A4Glycogen storage diseaseAR49113
SMARCD2Specific granule defiency 2AR31
SRP54Shwachman-Diamond syndromeAD3
SRP72*Bone marrow failure syndrome 1AD25
VPS13BCohen syndromeAR351203
VPS45#Neutropenia, severe congenital, 5, autosomal recessiveAR34
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WDR1AR8
GeneAssociated phenotypesInheritanceClinVarHGMD
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
RPL11Diamond-Blackfan anemiaAD1245
RPL15*Diamond-Blackfan anemiaAD22
RPL27Diamond-Blackfan anemia 1611
RPL31Diamond-Blackfan anemiaAD2
RPL35ADiamond-Blackfan anemiaAD714
RPL5Diamond-Blackfan anemiaAD1977
RPS10Diamond-Blackfan anemiaAD35
RPS19Diamond-Blackfan anemiaAD23172
RPS24Diamond-Blackfan anemiaAD610
RPS26Diamond-Blackfan anemiaAD1033
RPS28Diamond-Blackfan anemia 15 with mandibulofacial dysostosisAD11
RPS29Diamond-Blackfan anemiaAD44
RPS7Diamond-Blackfan anemiaAD210
GeneAssociated phenotypesInheritanceClinVarHGMD
AK2Reticular dysgenesisAR1417
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR2133
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
NHP2Dyskeratosis congenitaAR53
NOP10Dyskeratosis congenitaAR11
PARN*Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR1529
RTEL1Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenitaAD/AR5851
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
USB1Poikiloderma with neutropeniaAR2422
WRAP53Dyskeratosis congenitaAR76
GeneAssociated phenotypesInheritanceClinVarHGMD
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATRCutaneous telangiectasia and cancer syndrome, Seckel syndromeAD/AR1033
BLMBloom syndromeAR152119
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
BRIP1Fanconi anemia, Breast cancerAD/AR238189
CXCR4Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndromeAD515
ERCC4Fanconi anemia, Xeroderma pigmentosum, XFE progeroid syndromeAR1370
ERCC6L2Bone marrow failure syndrome 2AR49
FANCAFanconi anemiaAR191677
FANCBFanconi anemiaXL1121
FANCCFanconi anemiaAR9464
FANCD2*Fanconi anemiaAR2161
FANCEFanconi anemiaAR417
FANCFFanconia anemiaAR716
FANCGFanconi anemiaAR1692
FANCIFanconi anemiaAR1345
FANCLFanconi anemiaAR1324
FANCMFanconi anemiaAR650
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
PALB2Fanconi anemia, Pancreatic cancer, Breast cancerAD/AR495406
RAD51CFanconi anemia, Breast-ovarian cancer, familialAD/AR107125
SLX4Fanconi anemiaAR1872
UBE2TFanconi anemia, complementation group TAR27
XRCC2Hereditary breast cancerAD/AR1021
GeneAssociated phenotypesInheritanceClinVarHGMD
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR21
FASAutoimmune lymphoproliferative syndromeAD/AR31133
FASLGAutoimmune lymphoproliferative syndrome, type IBAD210
ITKLymphoproliferative syndromeAR411
LYSTChediak-Higashi syndromeAR5097
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MYO5AGriscelli syndromeAR79
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
RAB27AGriscelli syndrome, Elejalde syndromeAR1854
RECQL4Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndromeAR82114
SH2D1ALymphoproliferative syndromeXL21129
STX11Hemophagocytic lymphohistiocytosis, familialAR822
STXBP2Hemophagocytic lymphohistiocytosis, familialAR1277
UNC13DHemophagocytic lymphohistiocytosis, familialAR22192
XIAP*Lymphoproliferative syndromeXL1496
GeneAssociated phenotypesInheritanceClinVarHGMD
ANKRD26ThrombocytopeniaAD621
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
BLMBloom syndromeAR152119
BRAF*LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndromeAD13465
BRCA1*Pancreatic cancer, Breast-ovarian cancer, familialAD29972631
BRCA2Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familialAD/AR33692659
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD2443
CDKN2AMelanoma, familial, Melanoma-pancreatic cancer syndromeAD87232
CEBPAAcute myeloid leukemia, familialAD1513
DDX41Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility toAD921
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
EFL1*Shwachman-Diamond syndrome32
EPCAMDiarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposisAD/AR3880
ETV6Thrombocytopenia 5AD1038
FANCAFanconi anemiaAR191677
GATA2Myelodysplastic syndrome, Chronic neutropenia associated with monocytopenia, evolving to myelodysplasia and acute myeloid leukemia, Acute myeloid leukemia, Emberger syndrome, ImmunodeficiencyAD30142
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD4331
IKZF1Immunodeficiency, common variable, 13AD1035
KRAS*Noonan syndrome, Cardiofaciocutaneous syndromeAD6335
MAP2K1Cardiofaciocutaneous syndromeAD4523
MAP2K2Cardiofaciocutaneous syndromeAD2135
MLH1Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR8731191
MSH2Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndromeAD/AR9331249
MSH6Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR672586
NBNBreast cancer, Nijmegen breakage syndromeAD/AR18897
NF1*Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndromeAD11572901
NRASNoonan syndromeAD3114
PAX5Pre-B cell acute lymphoblastic leukemiaAD7
PMS2*Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposisAD/AR319342
PTPN11Noonan syndrome, MetachondromatosisAD135140
RIT1Noonan syndromeAD2326
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SAMD9Mirage syndrome, Tumoral calcinosis, normophosphatemicAD/AR1027
SAMD9LAtaxia-pancytopenia syndromeAD416
SBDS*Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasiaAD/AR1990
SOS1Noonan syndromeAD4471
SRP72*Bone marrow failure syndrome 1AD25
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TP53Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphomaAD393505
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonaryAD/AR11287
AP3B1Hermansky-Pudlak syndromeAR1434
AP3D1Hermansky-Pudlak syndrome 10AR14
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DTNBP1Hermansky-Pudlak syndromeAR23
GPR143Nystagmus, congenital, Ocular albinismXL22181
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
LYSTChediak-Higashi syndromeAR5097
OCA2Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentationAR43310
SFTPBSurfactant metabolism dysfunction, pulmonaryAR528
SFTPCSurfactant metabolism dysfunction, pulmonaryAD882
SLC45A2Skin/hair/eye pigmentation, Oculocutaneous albinismAD/AR16156
TERCAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD4273
TERTAplastic anemia, Pulmonary fibrosis and/or bone marrow failure, telomere-related, Dyskeratosis congenitaAD/AR48156
TINF2Revesz syndrome, Dyskeratosis congenitaAD2542
TYR*Albinism, oculocutaneousAR77441
TYRP1Albinism, oculocutaneousAR1055
GeneAssociated phenotypesInheritanceClinVarHGMD
AP3B1Hermansky-Pudlak syndromeAR1434
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
BLOC1S3Hermansky-Pudlak syndromeAR24
BLOC1S6Hermansky-Pudlak syndromeAR12
DTNBP1Hermansky-Pudlak syndromeAR23
GBA*Gaucher diseaseAR84488
GP1BAPseudo-von Willebrand disease, Bernard-Soulier syndromeAD/AR973
GP1BBGiant platelet disorder, isolated, Bernard-Soulier syndromeAD/AR553
GP9Bernard-Soulier syndromeAR642
HPS1*Hermansky-Pudlak syndromeAR2855
HPS3Hermansky-Pudlak syndromeAR1017
HPS4Hermansky-Pudlak syndromeAR1622
HPS5Hermansky-Pudlak syndromeAR2031
HPS6Hermansky-Pudlak syndromeAR1337
ITGA2BGlanzmann thrombastheniaAD/AR22234
ITGB3Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, Glanzmann thrombastheniaAD/AR18165
NBEAL2Gray platelet syndromeAR1051
P2RY12Bleeding disorder, platelet-AD/AR413
RASGRP2Bleeding disorder, platelet-type, 18AR320
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
TBXA2RBleeding disorder, platelet-AD16
THPOThrombocythemia 1AD510
WIPF1Wiskott-Aldrich syndrome 2AR23
GeneAssociated phenotypesInheritanceClinVarHGMD
ANK1SpherocytosisAD/AR20105
EPB41Ellipsocytosis 1AR612
EPB42SpherocytosisAR817
RHAGOverhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Anemia, hemolytic,Rh-Mod type, RHAG blood groupAD/AR/BG1328
SLC4A1Spherocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Cryohydrocytosis, Acanthocytosis, Band 3 MemphisAD/AR/BG38122
SPTA1Spherocytosis, Ellipsocytosis, PyropoikilocytosisAD/AR2951
SPTBSpherocytosis, Anemia, neonatal hemolytic, EllipsocytosisAD/AR2499
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCG5SitosterolemiaAR1342
ABCG8SitosterolemiaAR1844
ACTN1Bleeding disorder, platelet-AD725
ADAMTS13Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familialAR30183
ANKRD26ThrombocytopeniaAD621
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAR24
CYCS*ThrombocytopeniaAD23
EFL1*Shwachman-Diamond syndrome32
ETV6Thrombocytopenia 5AD1038
FLI1Thrombocytopenia, Paris-Trousseau type, Bleeding disorder, platelet type 21AD77
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FYBThrombocytopenia 3AR22
GATA1Anemia, without thrombocytopenia, Thrombocytopenia with beta-thalessemia,, Dyserythropoietic anemia with thrombocytopeniaXL2115
GBA*Gaucher diseaseAR84488
GFI1BBleeding disorder, platelet-type, 17AD69
GP1BAPseudo-von Willebrand disease, Bernard-Soulier syndromeAD/AR973
GP1BBGiant platelet disorder, isolated, Bernard-Soulier syndromeAD/AR553
GP9Bernard-Soulier syndromeAR642
HOXA11Radioulnar synostosis with amegakaryocytic thrombocytopeniaAD11
ITGA2Fetal and neonatal alloimmune thrombocytopeniaAD/AR5
ITGA2BGlanzmann thrombastheniaAD/AR22234
ITGB3Bleeding disorder, platelet-, Thrombocytopenia, neonatal alloimmune, Glanzmann thrombastheniaAD/AR18165
MASTLThrombocytopeniaAD5
MECOMRadioulnar synostosis with amegakaryocytic thrombocytopenia 2AD327
MPLThrombocythemia, Amegakaryocytic thrombocytopeniaAD/AR2355
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
NBEAL2Gray platelet syndromeAR1051
PRKACGBleeding disorder, platelet-type, 19AR11
RBM8A*Thrombocytopenia – absent radiusAD/AR512
RUNX1Platelet disorder, familial, with associated myeloid malignancyAD47101
SLFN14ThrombocytopeniaAD/AR44
SRCThrombocytopenia, autosomal dominant, 6AD21
SRP54Shwachman-Diamond syndromeAD3
THBDThrombophilia due to thrombomodulin defect, Hemolytic uremic syndrome, atypicalAD528
TUBB1MacrothrombocytopeniaAD27
WASNeutropenia, severe congenital, Thrombocytopenia, Wiskott-Aldrich syndromeXL57439
WIPF1Wiskott-Aldrich syndrome 2AR23