GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
APC | APC-related attenuated Familial Adenomatous Polyposis, Cenani-Lenz Syndrome, Colorectal Cancer, Hereditary Desmoid disease, Desmoid Tumor, Familial Adenomatous Polyposis 1, Familial Adenomatous Polyposis due to 5q22.2 microdeletion, Gardner syndrome, Gastric cancer, Hepatocellular carcinoma, Turcot syndrome with polyposis | AD | 98.92 | 1846 of 1882 |
ATM | Ataxia-telangiectasia, Breast Cancer, Mantle Cell lymphoma | AD,AR | 99.93 | 1608 of 1632 |
AXIN2 | AXIN2-related attenuated Familial Adenomatous Polyposis, Colorectal Cancer, Oligodontia-Colorectal Cancer Syndrome | AD | 99.86 | 32 of 33 |
BAP1 | Familial Melanoma, Meningioma, Tumor Predisposition Syndrome, Uveal Melanoma | AD | 100 | 194 of 195 |
BARD1 | Breast Cancer, Hereditary Breast and Ovarian Cancer syndrome | AD | 99.86 | 195 of 195 |
BMPR1A | Familial Colorectal Cancer Type X, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Mixed Polyposis syndrome, Juvenile Polyposis of Infancy, Juvenile Polyposis Syndrome | AD | 100 | 124 of 127 |
BRCA1 | Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group S, Hereditary Breast and Ovarian Cancer syndrome, Primary Peritoneal Carcinoma | AD,AR,MU | 98.97 | 2783 of 2894 |
BRCA2 | Breast Cancer, Familial Breast-Ovarian Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group D1, Glioma 3, Hereditary Breast and Ovarian Cancer syndrome, Medulloblastoma, Nephroblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor 1 | AD,AR,MU | 98.51 | 3343 of 3451 |
BRIP1 | Breast Cancer, Fanconi Anemia Complementation Group J, Hereditary Breast and Ovarian Cancer syndrome | AD,AR | 94.97 | 235 of 237 |
CDH1 | Blepharo-Cheilo-Odontic syndrome, Breast Cancer, Cleft lip/palate, Endometrial Carcinoma, Gastric Cancer, Prostate Cancer, Suppressor of Tumorigenicity 8 | AD | 100 | 361 of 363 |
CDK4 | Familial Melanoma, Cutaneous Malignant Melanoma, Well-differentiated Liposarcoma | AD | 100 | 22 of 22 |
CDKN2A | Familial Melanoma, Familial Pancreatic Carcinoma, Li-Fraumeni syndrome, Melanoma-Astrocytoma Syndrome, Melanoma-Pancreatic Cancer Syndrome, Cutaneous Malignant Melanoma | AD | 94.99 | 257 of 262 |
CHEK2 | Breast Cancer, Hereditary Breast and Ovarian Cancer Syndrome, Li-Fraumeni Syndrome 2, Osteosarcoma, Prostate Cancer | AD | 99.47 | 307 of 310 |
EPCAM | Colorectal Cancer, Hereditary Nonpolyposis type 8, Congenital Diarrhea 5 with Tufting Enteropathy, Lynch Syndrome | AR | 99.94 | 52 of 70 |
FANCC | Fanconi Anemia Complementation Group C | AR | 100 | 75 of 75 |
FANCM | Fanconi Anemia, Male infertility with azoospermia or oligozoospermia due to single gene mutation, Premature Ovarian Failure 15, Spermatogenic Failure 28 | AR | 99.73 | 59 of 61 |
FH | Fumarase Deficiency, Hereditary Leiomyomatosis and Renal Cell Cancer, Hereditary Pheochromocytoma-Paraganglioma, Multiple Hereditary Leiomyoma of Skin | AD,AR | 100 | 229 of 232 |
FLCN | Birt-Hogg-Dube Syndrome, Colorectal Cancer, Familial Spontaneous Pneumothorax, Primary Spontaneous Pneumothorax, Potocki-Lupski Syndrome, Nonpapillary Renal Cell Carcinoma | AD | 100 | 200 of 205 |
HOXB13 | Hereditary Prostate Cancer 9 | | 100 | 5 of 5 |
MEN1 | Familial Isolated Hyperparathyroidism, Insulinoma, Multiple Endocrine Neoplasia Type 1, Pituitary Gigantism, Prolactinoma | AD | 99.9 | 871 of 876 |
MET | Autosomal Recessive Deafness 97, Hepatocellular Carcinoma, Osteofibrous Dysplasia, Pediatric Hepatocellular Carcinoma, Papillary Renal Cell Carcinoma | AD,AR | 99.8 | 41 of 41 |
MITF | Coloboma, Osteopetrosis, Microphthalmia, Macrcephaly, Albinism and Deafness, Familial Melanoma, Cutaneous Malignant Melanoma 8, Tietz Syndrome, Waardenburg Syndrome Type 2A, Waardenburg-Shah Syndrome | AD,AR | 100 | 72 of 72 |
MLH1 | Colorectal Cancer, Hereditary Nonpolyposis Type 2, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome | AD,AR | 99.94 | 1079 of 1118 |
MSH2 | Lynch syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome | AD,AR | 99.99 | 1032 of 1057 |
MSH6 | Colorectal Cancer, Hereditary Nonpolyposis Type 5, Endometrial Carcinoma, Lynch Syndrome, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome | AD,AR | 99.28 | 613 of 641 |
MUTYH | Familial Adenomatous Polyposis 2, Gastric Cancer, MUTYH-Related attenuated Familial Adenomatous Polyposis | AR | 100 | 183 of 183 |
NBN | Aplastic Anemia, Hereditary Breast and Ovarian Cancer Syndrome, Acute Lymphocytic Leukemia, Nijmegen Breakage Syndrome | AR,MU,P | 100 | 200 of 200 |
NF1 | 17q11.2 Microduplication Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Juvenile Myelomonocytic Leukemia, Neurofibromatosis Type 1 due to NF1 mutation or intragenic deletion, Neurofibromatosis-Noonan syndrome, Familial Spinal Neurofibromatosis, Watson Syndrome | AD | 97.97 | 3082 of 3166 |
NTHL1 | Familial Adenomatous Polyposis 3, NTHL1-Related attenuated Familial Adenomatous Polyposis | AR | 100 | 13 of 13 |
PALB2 | Breast Cancer, Familial Pancreatic Carcinoma, Fanconi Anemia Complementation Group N, Hereditary Breast and Ovarian Cancer Syndrome | AD,AR | 98.78 | 601 of 617 |
PC | Pyruvate Carboxylase Deficiency | AR | 100 | 48 of 48 |
PMS2 | Colorectal Cancer, Hereditary Nonpolyposis Type 4, Lynch Syndrome, Mismatch Repair Cancer Syndrome | AD,AR | 97.17 | 264 of 285 |
POLD1 | Colorectal Cancer 10, Mandibular Hypoplasia, Deafness, Progeroid Features and Lipodystrophy Syndrome, Polymerase proofreading-related Adenomatous Polyposis | AD | 100 | 40 of 41 |
POLE | Colorectal Cancer 12, Facial Dysmorphism, Immunodeficiency, Livedo and Short Stature, IMAGe Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies and Immunodeficiency, Polymerase proofreading-related Adenomatous Polyposis | AD,AR | 100 | 100 of 100 |
POT1 | Familial melanoma, Glioma 9, Cutaneous Malignanty Melanoma | AD | 99.76 | 42 of 47 |
PTEN | Bannayan-Riley-Ruvalcaba syndrome, Cowden Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, Juvenile Polyposis of Infancy, Lhermitte-Duclos Disease, Macrocephaly/Autism Syndrome, Familial Meningioma, Prostate Cancer, Proteus Syndrome, Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome | AD | 99.97 | 609 of 629 |
RAD51C | Familial Breast-Ovarian Cancer-1, Fanconi Anemia Complementation Group O, Hereditary Breast and Ovarian Cancer Syndrome | AR | 100 | 130 of 130 |
RAD51D | Hereditary Breast and Ovarian Cancer Syndrome | | 100 | 97 of 97 |
RECQL | Rapadilino Syndrome, Osteoarcoma, Lymphoma | | 99.71 | 32 of 34 |
RET | Congenital Failure of Autonomic Control, Haddad Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Hirschsprung Disease, Multiple Endocrine Neoplasia type 2A and 2B, Pheochromocytoma, Bilateral Renal Agenesis, Sporadic Pheochromocytoma/Secreting Paraganglioma, Familial Medullary Thyroid Carcinoma | AD | 100 | 453 of 454 |
SCG5 | Hereditary Mixed Polyposis syndrome | | 100 | na of na |
SDHB | Carney-Stratakis Syndrome, Cowden Syndrome, Gastrointestinal Stromal Tumor, Hereditary Pheochromocytoma-Paraganglioma, Isolated Succinate-CoQ Reductase Deficiency, Paragangliomas 4, Pheochromocytoma, Sporadic Pheochromocytoma/Secreting Paraganglioma | AD | 100 | 261 of 264 |
SDHC | Carney-Stratakis Syndrome, Cowden Syndrome, Gastrointestinal Stromal Tumor, Hereditary Pheochromocytoma-Paraganglioma, Paragangliomas 3 | AD | 99.95 | 62 of 63 |
SDHD | Carcinoid Syndrome, Carney-Stratakis Syndrome, Cowden Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Isolated Succinate-CoQ Reductase Deficiency, Mitochondrial Complex 2 Deficiency, Paragangliomas 1, Sporadic Pheochromocytoma, Pheochromocytoma/Secreting Paraganglioma | AD,AR | 99.98 | 164 of 166 |
SMAD4 | Familial Pancreatic Carcinoma, Familial Thoracic Aortic Aneurysm and Aortic Dissection, Generalized Juvenile Polyposis/Juvenile Polyposis Coli, Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis Syndrome, Myhre Syndrome, Pancreatic Cancer | AD | 99.56 | 136 of 136 |
STK11 | Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular Tumor | AD | 81.99 | 456 of 470 |
TP53 | Adrenocortical Carcinoma, Basal Cell Carcinoma, Bone Marrow Failure Syndrome 5, Breast Cancer, Colorectal Cancer, Essential Thrombocythemia, Familial Pancreatic Carcinoma, Glioma 1, Hepatocellular Carcinoma, Hereditary Breast and Ovarian Cancer Syndrome, Li-Fraumeni Syndrome, Nasopharyngeal Carcinoma, Osteosarcoma, Pancreatic Cancer, Papilloma of Chroid Plexus | AD,MU,P | 98.92 | 557 of 563 |
TSC1 | Focal Cortical Dysplasia of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis Complex, Tuberous Sclerosis-1 | AD | 99.86 | 390 of 406 |
TSC2 | Focal Cortical Dysplasia of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis Complex, Tuberous Sclerosis-2 | AD | 100 | 1157 of 1159 |
VHL | Familial Erythrocytosis, Hereditary Pheochromocytoma-Paraganglioma, Pheochromocytoma, Nonpapillary Renal Cell Carcinoma, Sporadic Pheochromocytoma/Secreting Paraganglioma,Von Hippel-Lindau Syndrome | AD,AR | 100 | 511 of 544 |
