Genomics Precision Diagnostic > Hematology Precision Panel > Inherited Thrombocytopenia Precision Panel

Inherited Thrombocytopenia Precision Panel

Inherited thrombocytopenia (IT) is a group of hereditary disorders characterized by a low platelet count typically less than 150,000/uL with variations depending on age, gender and ethnic background.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Inherited thrombocytopenia (IT) is a group of hereditary disorders characterized by a low platelet count typically less than 150,000/uL with variations depending on age, gender and ethnic background. The main feature of these disorders results from a reduced platelet count often associated with an abnormal platelet function subsequently leading to impaired homeostasis. Severe inherited thrombocytopenias can present in the newborn period, whereas mild thrombocytopenias can remain undiagnosed until incidental detection on routine blood test during adulthood. Certain types of inherited thrombocytopenias carry a predisposition to acute myelogenous leukemia and/or myelodysplastic syndromes.
The Igenomix Inherited Thrombocytopenia Telangiectasia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of recurrent bleeding ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Inherited Thrombocytopenia Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Purpura
- Petechiae
- Prolonged bleeding from cuts
- Nosebleeds
- Gum bleeding
- Excessive bleeding after surgery
- Hemoptysis
- Hematuria
- Menorrhagia

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of routine screening for malignancies, medical therapy with antifibrinolytic agents, platelet transfusion and prevention of bleeding complications.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.
Identification of causative gene of inherited thrombocytopenias given the high degree of heterogeneity with various clinical presentations and prognoses.

Genes & Diseases

See all genes and diseases

Gene	OMIM Diseases	Inheritance*	% Gene Coverage (20x)	HGMD**
*ABCA1*	HDL Deficiency, Apolipoprotein A-I Deficiency, Tangier Disease	AD,AR	100	238 of 241
*ABCD4*	Methylmalonic Aciduria And Homocystinuria	AR	100	8 of 8
*ABCG5*	Homozygous Familial Hypercholesterolemia-		99.81	57 of 57
*ABCG8*	Sitosterolemia, Hypercholesterolemia	AR,MU,P	100	64 of 64
*ABL1*	Congenital Heart Defects And Skeletal Malformations Syndrome, Chronic Myeloid Leukemia	AD	99.93	8 of 8
*ACAD9*	Acyl-Coa Dehydrogenase 9 Deficiency	AR	100	62 of 62
*ACD*	Dyskeratosis Congenita, Familial Melanoma, Hoyeraal-Hreidarsson Syndrome	AD,AR	99.89	14 of 14
*ACP5*	Combined Immunodeficiency With Autoimmunity, Spondyloenc- hondrodysplasia	AR	100	27 of 28
*ACTN1*	Bleeding Disorder	AD	99.94	40 of 40
*ADA*	Severe Immunodeficiency, Omenn Syndrome	AR	100	97 of 98
*ADA2*	Polyarteritis Nodosa, Sneddon Syndrome, Blackfan-Diamond Anemia	AR	100	–
*ADAMTS13*	Thrombotic Thrombocytopenic Purpura	AR	99.59	195 of 213
*ADAR*	Aicardi-Goutieres Syndrome, Dyschromatosis Symmetrica Hereditaria Familial Infantile Bilateral Striatal Necrosis	AD,AR	99.93	252 of 252
*AGK*	Cataract, Cardiomyopathy	AR	99.98	33 of 33
*ALG8*	Congenital Disorder Of Glycosylation, Polycystic Liver Disease	AD,AR	99.5	22 of 22
*ANKRD11*	16q24.3 Microdeletion Syndrome, Kbg Syndrome	AD	99.6	119 of 124
*ANKRD26*	Thrombocytopenia	AD	98.76	3 of 23
*AP3B1*	Hermansky-Pudlak Syndrome	AR	100	34 of 35
*APOE*	Alzheimer Disease, Lipoprotein Glomerulopathy, Macular Degeneration, Sea-Blue Histiocyte Disease, Dysbetalipoproteinemia	AD,AR	99.53	65 of 68
*ARHGAP31*	Adams-Oliver Syndrome	AD	100	6 of 6
*ARHGEF1*	Immunodeficiency	AR	90.23	2 of 2
*ARPC1B*	Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease	AR	100	15 of 15
*ARVCF*	22q11.2 Deletion Syndrome		99.95	2 of 2
*ASAH1*	Farber Lipogranulomatosis, Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	AR	99.98	69 of 70
*ATP7B*	Wilson Disease	AR	99.97	989 of 1000
*ATRX*	Alpha-Thalassemia, Carpenter-Waziri Syndrome, Chudley- Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Neuroendocrine Tumor Of Stomach, Smith- Fineman-Myers Syndrome	X,XR,XD,G	98.5	–
*BCOR*	Microphthalmia, Acute Promyelocytic Leukemia, Oculofaciocardiodental Syndrome	X,XD,G	99.87	–
*BCR*	Chronic Myeloid Leukemia, 22q11.2 Microdeletion Syndrome	MU,P	97.78	–
*BLOC1S6*	Hermansky-Pudlak Syndrome	AR	99.48	2 of 2
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Lung Cancer, Craniopharyngioma, Noonan Syndrome	AD	100	80 of 80
*BRCA1*	Breast Cancer, Fanconi Anemia, Familial Pancreatic Carcinoma, Primary Peritoneal Carcinoma	AD,AR,MU	98.97	2783 of 2894
*BRCA2*	Breast Cancer, Fanconi Anemia, Glioma Susceptibility, Medulloblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor, Hereditary Breast And Ovarian Cancer Syndrome, Nephroblastoma	AD,AR,MU	98.51	3343 of 3451
*BRIP1*	Breast Cancer, Ovarian Cancer, Fanconi Anemia	AD,AR	94.97	235 of 237
*BTK*	Agammaglobulinemia, Hypogammaglobulinemia And Isolated Growth Hormone Deficiency	X,XR,G	100	–
*BTNL2*	Sarcoidosis	AD	99.98	1 of 1
C3	Complement Component 3 Deficiency, Hemolytic Uremic Syndrome	AD,AR	100	123 of 124
*CA2*	Osteopetrosis With Renal Tubular Acidosis	AR	100	36 of 36
*CALR*	Myelofibrosis With Myeloid Metaplasia, Thrombocythemia	AD	100	3 of 4
*CASP10*	Autoimmune Lymphoproliferative Syndrome, Gastric Cancer, Lymphoma Non-Hodgkin	AD	99.86	6 of 6
*CD109*	Fetal And Neonatal Alloimmune Thrombocytopenia		99.94	–
*CD19*	Immunodeficiency	AD,AR	99.99	7 of 7
*CD36*	Platelet Glycoprotein Iv Deficiency	AR	100	39 of 39
*CD40LG*	Immunodeficiency	X,XR,G	100	–
*CD46*	Hemolytic Uremic Syndrome, Hellp Syndrome	AD,AR	100	83 of 84
*CD81*	Immunodeficiency	AR	100	2 of 2
*CDC42*	Takenouchi-Kosaki Syndrome, Macrothrombocytopenia	AD	99.97	10 of 10
*CFB*	Complement Factor B Deficiency, Hemolytic Uremic Syndrome	AD,AR	100	26 of 26
*CFH*	Basal Laminar Drusen, Complement Factor H Deficiency, Hemolytic Uremic Syndrome, Hellp Syndrome	AD,AR,MU,P	99.94	340 of 342
*CFHR1*	Hemolytic Uremic Syndrome, Macular Degeneration	AD,AR	88.29	0 of 9
*CFHR3*	Hemolytic Uremic Syndrome, Macular Degeneration	AD,AR	89.89	0 of 7
*CFI*	Complement Factor I Deficiency, Hemolytic Uremic Syndrome, Macular Degeneration, Hellp Syndrome	AD,AR	99.93	156 of 158
*CIITA*	Bare Lymphocyte Syndrome, Rheumatoid Arthritis, Immunodeficiency By Defective Expression Of Mhc Class Ii	AR	98.51	15 of 16
*CLCN7*	Hypopigmentationand Delayed Myelination, Osteopetrosis	AD,AR	99.85	109 of 111
*COG1*	Congenital Disorder Of Glycosylation	AR	99.91	3 of 3
*COG4*	Congenital Disorder Of Glycosylation, Saul-Wilson Syndrome, Microcephalic Osteodysplastic Dysplasia	AD,AR	100	5 of 5
*COG6*	Congenital Disorder Of Glycosylation, Shaheen Syndrome, Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	AR	100	13 of 13
*COL4A5*	Alport Syndrome	X,XD,G	99.88	–
*COMT*	22q11.2 Deletion Syndrome	AD	99.98	5 of 5
*CORIN*	Preeclampsia	AD	99.7	5 of 5
*CR2*	Immunodeficiency	AD,AR	99.92	19 of 19
*CTC1*	Cerebroretinal Microangiopathy With Calcifications And Cysts, Dyskeratosis Congenita	AR	99.73	43 of 44
*CTLA4*	Autoimmune Lymphoproliferative Syndrome, Hashimoto Thyroiditis, Systemic Lupus Erythematosus, Classic Mycosis Fungoides, Granulomatosis With Polyanginitis , Sézary Syndrom	AD	99.97	60 of 60
*CYCS*	Thrombocytopenia	AD	100	4 of 4
*DCLRE1C*	Omenn Syndrome, Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	AR	99.99	72 of 73
*DGKE*	Nephrotic Syndrome	AR	99.67	41 of 42
*DGUOK*	Mitochondrial Dna Depletion Syndrome, Portal Hypertension, Progressive External Ophthalmoplegia	AR	100	68 of 70
*DHFR*	Megaloblastic Anemia	AR	99.7	4 of 4
*DIAPH1*	Deafness, Seizures	AD,AR	99.94	15 of 15
*DKC1*	Dyskeratosis Congenita, Hoyeraal- Hreidarsson Syndrome	X,XR,G	100	–
*DLL4*	Adams-Oliver Syndrome, Cutis Aplasia	AD	99.98	21 of 21
*DNAJC21*	Bone Marrow Failure Syndrome, Shwachman- Diamond Syndrome	AR	99.83	12 of 12
*DNASE1*	Systemic Lupus Erythematosus	AD	100	5 of 5
*DOCK6*	Adams-Oliver Syndrome	AR	98.06	37 of 37
*DZIP1L*	Polycystic Kidney Disease	AR	99.83	5 of 5
*EFL1*	Shwachman-Diamond Syndrome	AR	99.94	–
*ELANE*	Cyclic Hematopoiesis , Neutropenia	AD	100	227 of 227
*EOGT*	Adams-Oliver Syndrome	AR	100	11 of 11
*ERBB3*	Erythroleukemia, Lethal Congenital Contracture Syndrome	AD,AR	99.91	6 of 6
*ERCC4*	Fanconi Anemia, Xeroderma Pigmentosum, Cockayne Syndrome	AR	99.68	69 of 72
*ERCC6L2*	Bone Marrow Failure Syndrome	AR	97.82	13 of 14
*ESCO2*	Roberts Syndrome	AR	99.69	32 of 32
*ETV6*	Leukemia, Thrombocytopenia	AD	100	41 of 41
*FANCA*	Fanconi Anemia	AR	95.17	497 of 502
*FANCB*	Fanconi Anemia, Vacterl Association With Hydrocephalus	X,XR,G	95.53	–
*FANCC*	Fanconi Anemia	AR	100	75 of 75
*FANCD2*	Fanconi Anemia	AR	100	62 of 63
*FANCE*	Fanconi Anemia	AR	97	17 of 18
*FANCF*	Fanconi Anemia	AR	99.31	17 of 18
*FANCG*	Fanconi Anemia		100	94 of 94
*FANCI*	Fanconi Anemia	AR	100	53 of 54
*FANCL*	Fanconi Anemia	AR	100	25 of 26
*FANCM*	Spermatogenic Failure, Fanconi Anemia, Male Infertility	AR	99.73	59 of 61
*FARS2*	Oxidative Phosphorylation Deficiency, Spastic Paraplegia	AR	99.98	23 of 23
*FAS*	Autoimmune Lymphoproliferative Syndrome, Behçet Disease, Vogt-Koyanagi-Harada Disease	AD	100	135 of 135
*FASLG*	Autoimmune Lymphoproliferative Syndrome, Lung Cancer	AD	99.98	8 of 9
*FCGR2A*	Cystic Fibrosis, Systemic Lupus Erythematosus	AD,AR	93.97	–
*FCGR2B*	Systemic Lupus Erythematosus	AD	73.78	1 of 1
*FCGR2C*	Immune Thrombocytopenia		81.45	–
*FIP1L1*	Acute Promyelocytic Leukemia		99.92	0 of 1
*FLI1*	Bleeding Disorder, Jacobsen Syndrome, Paris-Trousseau Thrombocytopenia, Peripheral Primitive Neuroectodermal Tumor	AD,AR	100	7 of 7
*FLNA*	Cardiac Valvular Dysplasia, Fg Syndrome, Frontometaphyseal & Terminal Osseous Dysplasia, Otopalatodigital Syndrome, Melnick- Needles Syndrome, Neuronal Intestinal Pseudoobstruction, Periventricular Nodular Heterotopia, Ehlers- Danlos Syndrome	X,XR,XD,G	100	–
*FLT1*	Preeclampsia		100	6 of 6
*FOXP3*	Immunodysregulation, Polyendocrinopathy, Enteropathy	X,XR,G	99.86	–
*FYB1*	Thrombocytopenia	AR	99.68	–
*G6PC3*	Neutropenia	AR	100	45 of 45
*GALC*	Krabbe Disease	AR	99.38	252 of 254
*GATA1*	Down Syndrome, Dyserythropoietic Anemia, Thrombocytopenia, Beta-Thalassemia, Blackfan-Diamond Anemia, Congenital Erythropoietic Porphyria	X,XR,G	99.93	–
*GATA2*	Dendritic Cell, Monocyte, B Lymphocyte And Natural Killer Lymphocytedeficiency, Leukemia, Lymphedema, Myelodysplastic Syndrome	AD	100	137 of 142
*GBA*	Dementia, Gaucher Disease, Parkinson Disease	AD,AR	100	469 of 471
*GFI1B*	Thrombasthenia, Thrombocytopenia, Gray Platelet Syndrome	AD,AR	100	13 of 15
*GNA14*	Tufted Angioma		99.96	2 of 2
*GP1BA*	Bernard-Soulier Syndrome, Nonarteritic Anterior Ischemic Optic Neuropathy, Pseudo-Von Willebrand Disease, Fetal And Neonatal Alloimmune Thrombocytopenia	AD,AR	99.98	73 of 73
*GP1BB*	Bernard-Soulier Syndrome, 22q11.2 Deletion Syndrome, Fetal And Neonatal Alloimmune Thrombocytopenia	AR	74.08	26 of 50
*GP9*	Bernard-Soulier Syndrome	AR	99.96	41 of 41
*GUCY1A1*	Moyamoya Disease 6 With Achalasia; Mymy6, Moyamoya Disease	AR	99.91	–
*HELLPAR*	Hellp Syndrome		–	–
*HIRA*	22q11.2 Deletion Syndrome		99.99	5 of 5
*HLA-B*	Spondyloarthropathy, Behçet Disease, Stevens-Johnson Syndrome, Takayasu Arteriti	MU	99.55	1 of 1
*HLA-DRB1*	Multiple Sclerosis, Sarcoidosis, Bullous Pemphigoid, Cutaneous Systemic Sclerosis, Follicular Lymphoma, Narcolepsy, Systemic-Onset Juvenile Idiopathic Arthritis	AD,MU	97.19	2 of 2
*HLCS*	Holocarboxylase Synthetase Deficiency	AR	100	47 of 47
*HOXA11*	Radioulnar Synostosis- Amegakaryocytic Thrombocytopenia Syndrome	AD	99.92	3 of 3
*HPS5*	Hermansky-Pudlak Syndrome	AR	99.88	32 of 32
*HYOU1*	Immunodeficiency, Hypoglycemia	AR	99.94	2 of 2
*ICOS*	Common Variable Immunodeficiency, Icos Deficiency	AD,AR	100	4 of 5
*IFIH1*	Aicardi-Goutieres Syndrome, Singleton- Merten Syndrome	AD	99.62	26 of 27
*IFNG*	Aplastic Anemia, Immunodeficiency, Tuberous Sclerosis	AD,AR	99.77	–
*IKZF1*	Immunodeficiency, Stevens-Johnson Syndrome	AD	99.98	43 of 43
*IL7R*	Severe Combined Immunodeficiency, Omenn Syndrome	AR	100	54 of 55
*IRAK1*	Pediatric Systemic Lupus Erythematosus		96.2	–
*IRF2BP2*	Immunodeficiency, Acute Promyelocytic Leukemia	AD	86.22	1 of 2
*ITGA2*	Fetal And Neonatal Alloimmune Thrombocytopenia		100	7 of 7
*ITGA2B*	Glanzmann Thrombasthenia, Fetal And Neonatal Alloimmune Thrombocytopenia	AD,AR	100	237 of 239
*ITGB3*	Glanzmann Thrombasthenia, Fetal And Neonatal Alloimmune Thrombocytopenia	AD,AR	99.44	178 of 179
*ITK*	Lymphoproliferative Syndrome	AR	100	19 of 19
*IVD*	Isovaleric Acidemia	AR	100	105 of 105
*JAK2*	Erythrocytosis, Leukemia, Myelofibrosismyelofibrosis, Polycythemia Vera, Thrombocythemia, Budd-Chiari Syndrome, Essential Thrombocythemia, Familial Thrombocytosis, Polycythemia Vera, Primary Myelofibrosis	AD,AR	99.63	25 of 27
*JAM2*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AR	99.98	–
*JMJD1C*	22q11.2 Deletion Syndrome		99.09	27 of 27
*KDM6A*	Kabuki Syndrome	AD,X,XD,G	99.98	–
*KIF15*	21q22.11q22.12 Microdeletion Syndrome		99.85	3 of 3
*KMT2D*	Kabuki Syndrome	AD	99.71	839 of 847
*KRAS*	Leukemia, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome, Noonan Syndrome, Toriello- Lacassie-Droste Syndrome	AD	100	38 of 38
*LARS2*	Sideroblastic Anemia, Perrault Syndrome	AR	99.99	20 of 20
*LAT*	Immunodeficiency	AR	100	3 of 3
*LBR*	Pelger-Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia	AD,AR	99.98	34 of 34
*LIG4*	Lig4 Syndrome, Multiple Myeloma, Dubowitz Syndrome, Omenn Syndrome	AR	99.48	46 of 46
*LMBRD1*	Methylmalonic Aciduria And Homocystinuria	AR	99.88	8 of 8
*LRBA*	Immunodeficiency With Autoimmunity	AR	99.91	79 of 81
*LYST*	Chediak-Higashi Syndrome	AR	99.98	117 of 117
*MAD2L2*	Fanconi Anemia	AR	99.91	1 of 1
*MAP2K1*	Cardiofaciocutaneous Syndrome, Melorheostosis, Noonan Syndrome	AD	100	31 of 31
*MASTL*	Thrombocytopenia	–	99.95	5 of 5
*MECOM*	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia	AD	99.97	26 of 27
*MMAA*	Methylmalonic Aciduria	AR	99.98	77 of 77
*MMAB*	Methylmalonic Aciduria	AR	99.52	43 of 43
*MMACHC*	Methylmalonic Aciduria And Homocystinuria	AR	99.97	105 of 105
*MMUT*	Vitamin B12- Unresponsive Methylmalonic Acidemia	AR	99.97	–
*MPIG6B*	Thrombocytopenia, Anemia, Myelofibrosis	AR	–	–
*MPL*	Thrombocytopenia, Myelofibrosismyelofibrosis With Myeloid Metaplasia, Thrombocytosis, Polycythemia Vera	AD,AR	100	55 of 55
*MS4A1*	Immunodeficiency	AR	100	2 of 2
*MTOR*	Taylor Dysplasia, Smith-Kingsmore Syndrome, Macrocephaly- Intellectual Disability- Neurodevelopmental Disorder-Small Thorax Syndrome	AD	99.98	39 of 39
*MVK*	Hyper-IgD Syndrome, Porokeratosis, Mevalonic Aciduria	AD,AR	100	180 of 181
*MYH9*	Deafness, May-Hegglin Anomaly	AD	100	144 of 145
*MYORG*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AR	100	–
*MYSM1*	Bone Marrow Failure Syndrome	AR	98.5	4 of 4
*NABP1*	Promyelocytic Leukemia	–	100	–
*NBEAL2*	Gray Platelet Syndrome	AR	99.74	51 of 51
*NBN*	Aplastic Anemia, Leukemia, Nijmegen Breakage Syndrome, Hereditary Breast And Ovarian Cancer Syndrome	AR,MU,P	100	200 of 200
*NFKB1*	Immunodeficiency	AD	99.98	38 of 41
*NFKB2*	Immunodeficiency	AD	100	22 of 22
*NHEJ1*	Cernunnos-Xlf Deficiency		100	12 of 14
*NHP2*	Dyskeratosis Congenital	AR	100	3 of 3
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32	409 of 426
*NLRC4*	Autoinflammation With Infantile Enterocolitis	AD	99.54	15 of 15
*NOP10*	Dyskeratosis Congenital	AR	100	1 of 1
*NOS3*	Alzheimer Disease, Hypertension, Ischemic Stroke, Eclampsia	AD,MU	99.98	13 of 13
*NOTCH1*	Adams-Oliver Syndrome, Aortic Valve Disease	AD	99.83	178 of 179
*NPM1*	Leukemia, Dyskeratosis Congenital	AD	99.89	2 of 2
*NRAS*	Colorectal Cancer, Epidermal And Sebaceus Nevus, Neurocutaneous Melanosis, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning- Feuerstein-Mims Syndrome, Thyroid Cancer	AD	100	15 of 15
*NSUN2*	Dubowitz Syndrome	AR	99.99	8 of 8
*NUMA1*	Acute Promyelocytic Leukemia	–	99.99	5 of 5
*OCLN*	Pseudo-Torch Syndrome, Congenital Intrauterine Infection-Like Syndrome	AR	86.89	15 of 17
*OCRL*	Dent Disease, Lowe Oculocerebrorenal Syndrome	X,XR,G	100	–
*OSTM1*	Osteopetrosis With Neuroaxonal Dysplasia	AR	100	8 of 9
*PALB2*	Breast Cancer, Ovarian Cancer, Fanconi Anemia, Familial Pancreatic Carcinoma	AD,AR	98.78	601 of 617
*PARN*	Dyskeratosis Congenital, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal-Hreidarsson Syndrome	AD,AR	99.98	33 of 33
*PCCA*	Propionic Acidemia	AR	100	137 of 137
*PCCB*	Propionic Acidemia	AR	99.95	136 of 138
*PDGFB*	Basal Ganglia Calcification, Meningioma, Bilateral Striopallidodentate Calcinosis, Dermatofibrosarcoma Protuberans	AD	100	22 of 22
*PDGFRB*	Basal Ganglia Calcification, Kosaki Overgrowth Syndrome, Myeloproliferative Disorder, Myofibromatosis, Premature Aging Syndrome, Bilateral Striopallidodentate Calcinosis	AD	99.64	28 of 28
*PEPD*	Prolidase Deficiency	AR	95	34 of 34
*PHGDH*	Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency	AR	100	26 of 26
*PKHD1*	Polycystic Kidney Disease	AR	99.97	582 of 585
*PLAU*	Alzheimer Disease, Quebec Platelet Disorder	AD	100	5 of 5
*PML*	Acute Promyelocytic Leukemia	–	100	4 of 4
*PNP*	Purine Nucleoside Phosphorylase Deficiency	AR	99.73	39 of 39
*POMP*	Proteasome-Associated Autoinflammatory Syndrome, Keratosis Linearis- Ichthyosis Congenita- Sclerosing Keratoderma Syndrome	AD,AR	99.99	4 of 4
*PRDX1*	Methylmalonic Aciduria And Homocystinuria	AR	100	3 of 3
*PRF1*	Aplastic Anemia, Hemophagocytic Lymphohistiocytosis, Lymphoma, Non-Hodgkin	AR	99.99	196 of 196
*PRKACG*	Bleeding Disorder	AR	99.88	1 of 1
*PRKAR1A*	Acrodysostosis, Carney Complex, Pigmented Nodular Adrenocortical Disease, Promyelocytic Leukemia, Familial Atrial Myxoma	AD	95.93	165 of 171
*PRKCD*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	100	9 of 9
*PSAP*	Saposin Deficiency, Gaucher Disease, Krabbe Disease, Metachromatic Leukodystrophy, Encephalopathy	AR	100	33 of 33
*PSMB4*	Proteasome-Associated Autoinflammatory Syndrome	AR	100	4 of 4
*PSMB8*	Proteasome-Associated Autoinflammatory Syndrome	AR	100	11 of 11
*PSMB9*	Proteasome-Associated Autoinflammatory Syndrome	AR	100	2 of 2
*PTPN11*	Juvenile Myelomonocytic Leukemia, Leopard Syndrome, Metachondromatosis, Noonan Syndrome	AD	100	150 of 151
*PTPN22*	Diabetes Mellitus , Rheumatoid An Idiopathic Arthritis, Systemic Lupus Erythematosus, Giant Cell Arteritis, Granulomatosis With Polyangiitis, Vogt-Koyanagi-Harada Disease	AD	99.67	5 of 5
*RAD51*	Hereditary Breast And Ovarian Cancer Syndrome, Fanconi Anemia, Mirror Movements	AD	99.98	16 of 16
*RAD51C*	Fanconi Anemia, Hereditary Breast And Ovarian Cancer Syndrome	AR	100	130 of 130
*RAG1*	Omenn Syndrome, Severe Combined Immunodeficiency	AR	100	193 of 193
*RAG2*	Severe Combined Immunodeficiency With Granulomas, Omenn Syndrome	AR	100	90 of 91
*RARA*	Acute Promyelocytic Leukemia	–	97.16	2 of 2
*RASGRP1*	Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	98.41	8 of 9
*RBM8A*	Thrombocytopenia	AR	100	4 of 4
*RBPJ*	Adams-Oliver Syndrome	AD	99.98	8 of 8
*RFWD3*	Fanconi Anemia	AR	99.99	2 of 2
*RFX5*	Bare Lymphocyte Syndrome, Immunodeficiency	AR	99.98	13 of 13
*RFXANK*	Bare Lymphocyte Syndrome, Immunodeficiency	AR	95.14	24 of 24
*RFXAP*	Bare Lymphocyte Syndrome, Immunodeficiency	AR	94.32	8 of 9
*RNASEH2A*	Aicardi-Goutieres Syndrome	AR	100	23 of 23
*RNASEH2B*	Aicardi-Goutieres Syndrome	AR	99.95	41 of 41
*RNASEH2C*	Aicardi-Goutieres Syndrome	AR	100	14 of 14
*RPL11*	Diamond-Blackfan Anemia	AD	100	52 of 52
*RPL15*	Diamond-Blackfan Anemia	AD	99.74	8 of 9
*RPL18*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPL26*	Diamond-Blackfan Anemia	AD	92.97	1 of 1
*RPL27*	Diamond-Blackfan Anemia	AD	100	2 of 2
*RPL31*	Diamond-Blackfan Anemia	AD	100	0 of 1
*RPL35*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPL35A*	Diamond-Blackfan Anemia	AD	100	12 of 12
*RPL5*	Diamond-Blackfan Anemia	AD	100	95 of 95
*RPS10*	Diamond-Blackfan Anemia	AD	100	7 of 7
*RPS15A*	Diamond-Blackfan Anemia	AD	98.74	1 of 1
*RPS17*	Diamond-Blackfan Anemia	AD	0	0 of 7
*RPS19*	Diamond-Blackfan Anemia	AD	78	159 of 165
*RPS24*	Diamond-Blackfan Anemia	AD	90.17	11 of 14
*RPS26*	Diamond-Blackfan Anemia	AD	100	28 of 29
*RPS27*	Diamond-Blackfan Anemia	AD	99.85	1 of 1
*RPS28*	Diamond-Blackfan Anemia	AD	100	1 of 1
*RPS29*	Diamond-Blackfan Anemia	AD	100	4 of 4
*RPS7*	Diamond-Blackfan Anemia	AD	100	7 of 10
*RRAS2*	Noonan Syndrome	AD	99.8	6 of 6
*RREB1*	22q11.2 Deletion Syndrome	–	99.92	8 of 8
*RTEL1*	Congenital Dyskeratosis, Hoyeraal-Hreidarsson Syndrome, Idiopathic Pulmonary Fibrosis	AD,AR	99.73	127 of 131
*RUNX1*	Platelet Disorder, Aggressive Systemic Mastocytosis, Chronic Myeloid Leukemia	AD	99.83	90 of 90
*SALL4*	Ivic Syndrome, Acro-Renal-Ocular Syndrome, Duane Retraction Syndrome	AD	100	54 of 54
*SAMD9*	Mirage Syndrome, Tumoral Calcinosis	AD,AR	99.72	45 of 46
*SAMD9L*	Ataxia Pancytopenia Syndrome	AD	99.81	39 of 39
*SAMHD1*	Aicardi-Goutieres Syndrome, Chilblain Lupus	AD,AR	100	51 of 51
*SARS2*	Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis	AR	97.5	6 of 6
*SBDS*	Aplastic Anemia, Shwachman-Diamond Syndrome	AR	100	77 of 79
*SC5D*	Lathosterolosis	AR	99.62	6 of 6
*SCARB2*	Action Myoclonus- Renal Failure Syndrome, Gaucher Disease, Unverricht-Lundborg Disease	AR	99.95	29 of 29
*SEC24C*	22q11.2 Deletion Syndrome	–	99.98	–
*SF3B1*	Myelodysplastic Syndrome, Sideroblastic Anemia, Uveal Melanoma –		99.95	4 of 4
*SH2D1A*	Lymphoproliferative Syndrome	X,XR,G	99.94	–
*SLC19A2*	Thiamine-Responsive Megaloblastic Anemia Syndrome	AR	99.99	67 of 68
*SLC20A2*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AD	99.96	123 of 127
*SLC35A1*	Congenital Disorder Of Glycosylation, Type Iif; Cdg2f, Slc35a1-CDG	AR	100	6 of 6
*SLC46A1*	Hereditary Folate Malabsorption	AR	99.8	21 of 21
*SLC7A7*	Lysinuric Protein Intolerance	AR	100	61 of 61
*SLFN14*	Bleeding Disorder	AD	99.86	5 of 5
*SLX4*	Fanconi Anemia	AR	99.92	76 of 76
*SMARCAL1*	Immunoosseous Dysplasia	AR	99.94	93 of 93
*SMARCD2*	Specific Granule Deficiency	AR	91.58	1 of 1
*SMPD1*	Niemann-Pick Disease	AR	99.98	258 of 258
*SNX10*	Osteopetrosis	AR	100	14 of 14
*SP110*	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	AR	99.94	8 of 8
*SPATA5*	Epilepsy, Hearing Loss, And Mental Retardation Syndrome	AR	99.83	30 of 30
*SPP1*	Pediatric Systemic Lupus Erythematosus –		99.77	2 of 2
*SRC*	Colorectal Cancer, Thrombocytopenia	AD	99.98	3 of 3
*SRP54*	Neutropenia, Shwachman-Diamond Syndrome	AD,AR	99.95	8 of 8
*STAT1*	Immunodeficiency, Autoimmune Enteropathy And Endocrinopathy- Susceptibility To Chronic Infections Syndrome	AD,AR	100	138 of 138
*STAT2*	Immunodeficiency, Pseudo-Torch Syndrome	AR	100	9 of 9
*STAT3*	Autoimmune Disease, Acute Promyelocytic Leukemia, Hyper-Ige Syndrome, Permanent Neonatal Diabetes Mellitus	AD	100	171 of 171
*STAT4*	Behçet Disease, Idiopathic Arthritis, Systemic Lupus Erythematosus –		99.98	4 of 4
*STAT5B*	Growth Hormone Insensitivity With Immunodeficiency, Acute Promyelocytic Leukemia	AD	99.94	12 of 12
*STIM1*	Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect, Myopathy, Stormorken Syndrome, Tubular Aggregate Myopathy	AD,AR	100	28 of 28
*STOX1*	Preeclampsia	MU,P	90.34	4 of 5
*STT3B*	Congenital Disorder Of Glycosylation	AR	98.71	5 of 5
*STX11*	Hemophagocytic Lymphohistiocytosis	AR	100	24 of 24
*TALDO1*	Transaldolase Deficiency	AR	95	13 of 14
*TBL1XR1*	Pierpont Syndrome, Acute Promyelocytic Leukemia	AD	99.78	23 of 23
*TBX1*	Conotruncal Heart Malformations, DiGeorge Syndrome, Tetralogy Of Fallot, Velocardiofacial Syndrome	AD,AR	88.7	35 of 42
*TBXAS1*	Ghosal Hematodiaphyseal Dysplasia	AR	100	6 of 6
*TCN2*	Transcobalamin Deficiency	AR	100	25 of 27
*TERC*	Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure , Idiopathic Aplastic Anemia, Idiopathic Pulmonary Fibrosis	AD	–	–
*TERT*	Aplastic Anemia, Dyskeratosis Congenita, Leukemia, Melanoma, Meningioma, Pulmonary Fibrosis And/Or Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome	AD,AR	99.09	194 of 197
*TET2*	Myelodysplastic Syndrome, Mastocytosis, Thrombocythemia, Polycythemia – Vera, Primary Myelofibrosis, Refractory Anemia		99.96	15 of 15
*TFRC*	Immunodeficiency	AR	100	2 of 2
*THBD*	Hemolytic Uremic Syndrome, Thrombophilia	AD	99.91	29 of 30
*TINF2*	Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal-Hreidarsson Syndrome	AD	99.94	47 of 47
*TMEM165*	Congenital Disorder Of Glycosylation	AR	93.69	4 of 5
*TNFAIP3*	Autoinflammatory Syndrome	AD	99.91	30 of 30
*TNFRSF11A*	Osteopetrosis, Paget Disease, Polyostotic Osteolytic Dysplasia, Dysosteosclerosis	AD,AR	96.37	17 of 22
*TNFRSF13B*	Immunodeficiency	AD,AR	100	50 of 50
*TNFRSF13C*	Immunodeficiency	AD,AR	99.2	3 of 3
*TNFSF11*	Osteopetrosis	AR	99.84	4 of 4
*TNFSF12*	Immunodeficiency	–	95.06	1 of 1
*TPP2*	Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia- Primary Immunodeficiency Syndrome-		99.84	11 of 11
*TREX1*	Chilblain Lupus, Vasculopathy, Aicardi-Goutières Syndrome	AD,AR	100	75 of 75
*TSR2*	Diamond-Blackfan Anemia	X,XR,G	99.96	–
*TUBB1*	Macrothrombocytopenia	AD	100	13 of 13
*UBE2T*	Fanconi Anemia	AR	100	4 of 4
*UFD1*	22q11.2 Deletion Syndrome	–	99.98	–
*UQCRFS1*	Mitochondrial Complex Iii Deficiency	AR	99.58	–
*UROS*	Congenital Erythropoietic Porphyria	AR	100	44 of 50
*USB1*	Poikiloderma With Neutropenia, Dyskeratosis Congenita	AR	100	24 of 24
*USP18*	Pseudo-Torch Syndrome	AR	95.84	1 of 1
*VPS33A*	Mucopolysaccharidosis- Plus Syndrome	AR	97.86	1 of 1
*VPS45*	Neutropenia	AR	100	4 of 4
*VWF*	Von Willebrand Disease	AD,AR	98	933 of 1001
*WARS2*	Neurodevelopmental Disorder, Wars2-Related Combined Oxidative Phosphorylation Defect	AR	99.95	14 of 15
*WAS*	Neutropenia, Thrombocytopenia, Wiskott-Aldrich Syndrome	X,XR,G	100	–
*WDR1*	Periodic Fever, Immunodeficiency, Thrombocytopenia	AR	100	9 of 9
*WFS1*	Cataract, Deafness, Diabetes Mellitus, Wolfram Syndrome	AD,AR	99.97	390 of 395
*WIPF1*	Wiskott-Aldrich Syndrome	AR	99.79	3 of 3
*WRAP53*	Dyskeratosis Congenita	AR	100	10 of 10
*XIAP*	Lymphoproliferative Syndrome	X,XR,G	99.94	–
*XPR1*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AD	99.88	14 of 14
*XRCC2*	Fanconi Anemia, Male Infertility With Azoospermia Or Oligozoospermia	AR	98.39	28 of 28
*ZAP70*	Autoimmune Disease, Severe Combined Immunodeficiency	AR	99.99	30 of 30
*ZBTB16*	Skeletal Defects, Genital Hypoplasia, Acute Promyelocytic Leukemia	AR	100	1 of 1

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

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