Genomics Precision Diagnostic > Preventive Medicine Precision Panel > ACMG Actionable Diseases Precision Panel

ACMG Actionable Diseases Precision Panel – 59 genes

The American College of Medical Genetics and Genomics (ACMG) Actionable Diseases Gene Panel shows a comprehensive selection of genes by ACMG.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

The American College of Medical Genetics and Genomics (ACMG) Actionable Diseases Gene Panel shows a comprehensive selection of genes by ACMG. Mutations in these genes lead to disorders that have been scientifically proven to be actionable, meaning that early intervention improves prognosis, life expectancy, quality of life and overall well-being. Early identification before the onset of manifestations allows the prevention of symptoms thus initiating prompt multidisciplinary treatment. The main goal is to report the known or expected pathogenic variants in these genes while performing exome and genome sequencing, even if those are unrelated to the primary medical reason for testing.
The Igenomix ACMG Actionable Disorders Precision Panel can be used to identify those genes and perform a screening, whether the patient shows symptoms or not, to locate mutations and start an early treatment.

Indication

The Igenomix ACMG Actionable Disorders Precision Panel is indicated as a screening and diagnostic test in those cases where there are:

Family history of cancer or cardiomyopathy
Multiple relatives on the same side of the family with any form of cancer or cardiomyopathy.
Asymptomatic patients who wish to check the chance of developing any of the reported diseases.

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 multidisciplinary treatment including lifestyle modifications, early surveillance from malignancy, regular follow up with a specialist, and medical or surgical care if needed.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Family planning for adequate reproductive decisions, using available assisted reproduction technology.

Genes & Diseases

See all genes & diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACTA2*	Aortic Aneurysm, Moyamoya Disease, Multisystemic Smooth Muscle Dysfunction Syndrome	AD	100	88 of 88
*ACTC1*	Atrial Septal Defect, Cardiomyopathy	AD	99.93	72 of 74
*APC*	Desmoid Disease, Familial Adenomatous Polyposis, Hepatocellular Carcinoma, Cenani-Lenz Syndrome, Gardner Syndrome, Turcot Syndrome, Colorectal Cancer, Gastric Cancer	AD	98.92	1846 of 1882
*APOB*	Hypercholesterolemia, Hypobetalipoproteinemia	AD,AR	99.62	369 of 375
*ATP7B*	Wilson Disease	AR	99.97	989 of 1000
*BMPR1A*	Polyposis Syndrome, Familial Colorectal Cancer, Hereditary Mixed Polyposis Syndrome	AD	100	124 of 127
*BRCA1*	Breast And Ovarian Cancer, Fanconi Anemia, Familial Pancreatic Carcinoma, Peritoneal Carcinoma	AD,AR,MU	98.97	2783 of 2894
*BRCA2*	Breast And Ovarian Cancer, Fanconi Anemia, Glioma, Medulloblastoma, Pancreatic Cancer, Prostate Cancer, Wilms Tumor, Nephroblastoma	AD,AR,MU	98.51	3343 of 3451
*CACNA1S*	Hypokalemic Periodic Paralysis, Malignant Hyperthermia, Thyrotoxic Periodic Paralysis	AD	100	64 of 64
*COL3A1*	Ehlers-Danlos Syndrome, Polymicrogyria, Acrogeria, Cerebral Saccular Aneurysm	AD,AR	100	676 of 676
*DSC2*	Arrhythmogenic Right Ventricular Dysplasia	AD,AR	100	123 of 124
*DSG2*	Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathy	AD	99.38	167 of 169
*DSP*	Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathy, Epidermolysis Bullosa, Skin Fragility-Woolly Hair Syndrome, Carvajal Syndrome, Idiopathic Pulmonary Fibrosis, Palmoplantar Keratoderma	AD,AR	99.91	366 of 369
*FBN1*	Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill- Marchesani Syndrome, Familial Thoracic Aortic Aneurysm, Aortic Dissection, Glaucoma, Microspherophakia, Shprintzen-Goldberg Syndrome	AD	100	2836 of 2845
*GLA*	Fabry Disease	X,XR,G	98	–
*KCNH2*	Long Qt Syndrome, Short Qt Syndrome, Romano-Ward Syndrome	AD	98.69	908 of 930
*KCNQ1*	Atrial Fibrillation, Beckwith-Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Long Qt Syndrome, Short Qt Syndrome, Romano- Ward Syndrome	AD,AR	93.23	600 of 624
*LDLR*	Hypercholesterolemia	AD	99.89	1921 of 1996
*LMNA*	Cardiomyopathy, Charcot-Marie-Tooth Disease, Emery- Dreifuss Muscular Dystrophy, Heart- Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Lipodystrophy, Malouf Syndrome, Mandibuloacral Dysplasia, Werner Syndrome, Laminopathy, Hypergonadotropic Hypogonadism	AD,AR	100	619 of 620
*MEN1*	Endocrine Neoplasia, Hyperparathyroidism, Insulinoma, Pituitary Gigantism, Prolactinoma	AD	99.9	871 of 876
*MLH1*	Colorectal Cancer, Mismatch Repair Cancer Syndrome, Muir-Torre Syndrome, Lynch 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, Endometrial Carcinoma, Mismatch Repair Cancer Syndrome, Lynch Syndrome , Muir-Torre Syndrome	AD,AR	99.28	613 of 641
*MUTYH*	Adenomatous Polyposis, Gastric Cancer	AR	100	183 of 183
*MYBPC3*	Cardiomyopathy, Left Ventricular Noncompaction	AD,AR	99.95	1072 of 1079
*MYH11*	Aortic Aneurysm, Thoracic Aortic Aneurysm, Aortic Dissection, Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome	AD	100	67 of 67
*MYH7*	Myopathy, Ebstein Malformation	AD,AR	99.95	1053 of 1054
*MYL2*	Cardiomyopathy	AD	100	67 of 67
*MYL3*	Cardiomyopathy	AD,AR	100	42 of 42
*NF2*	Meningioma, Neurofibromatosis, Schwannomatosis	AD	100	359 of 362
*OTC*	Hyperammonemia, Ornithine Transcarbamylase Deficiency	X,XR,G	99.97	–
*PCSK9*	Hypercholesterolemia	AD	100	96 of 98
*PKP2*	Arrhythmogenic Right Ventricular Dysplasia, Brugada Syndrome	AD	100	306 of 307
*PMS2*	Colorectal Cancer, Mismatch Repair Cancer Syndrome, Lynch Syndrome	AD,AR	97.17	264 of 285
*PRKAG2*	Cardiomyopathy, Glycogen Storage Disease Of Heart, Wolff-Parkinson- White Syndrome	AD	99.98	61 of 61
*PTEN*	Cowden Disease, Macrocephaly, Autism Spectrum Disease, Meningioma, Prostate Cancer, Bannayan-Riley- Ruvalcaba Syndrome, Breast And Ovarian Cancer, Juvenile Polyposis Of Infancy, Lhermitte-Duclos Disease, Proteus Syndrome, Segmental Outgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus	AD	99.97	609 of 629
*RB1*	Bladder Cancer, Osteosarcoma, Retinoblastoma, Small Cell Cancer Of The Lung, Monosomy 13q14	AD	99.41	941 of 995
*RET*	Hirschsprung Disease, Multiple Endocrine Neoplasia, Pheochromocytoma, Thyroid Carcinoma, Haddad Syndrome, Pheochromocytoma- Paraganglioma, Renal Agenesis	AD	100	453 of 454
*RYR1*	Central Core Disease Of Muscle, Malignant Hyperthermia, Minicore Myopathy, External Ophthalmoplegia	AD,AR	97.63	733 of 746
*RYR2*	Arrhythmogenic Right Ventricular Dysplasia, Ventricular Tachycardia, Dilated Cardiomyopathy	AD	99.2	466 of 472
*SCN5A*	Atrial Fibrillation, Brugada Syndrome, Cardiomyopathy, Long Qt Syndrome, Progressive Familial Heart Block, Sick Sinus Syndrome, Sudden Infant Death Syndrome, Ventricular Fibrillation, Romano-Ward Syndrome	AD,AR,MU	99.45	929 of 942
*SDHAF2*	Paraganglioma, Pheochromocytoma	AD	96.78	8 of 8
*SDHB*	Carney-Stratakis Syndrome, Gastrointestinal Stromal Tumor, Paraganglioma, Pheochromocytoma, Cowden Syndrome, Succinate-Coq Reductase Deficiency	AD	100	261 of 264
*SDHC*	Carney-Stratakis Syndrome, Gastrointestinal Stromal Tumor, Paraganglioma, Cowden Syndrome, Pheochromocytoma	AD	99.95	62 of 63
*SDHD*	Carney- Stratakis Syndrome, Mitochondrial Complex Ii Deficiency, Paraganglioma, Pheochromocytoma, Carcinoid Syndrome, Cowden Syndrome, Succinate-Coq Reductase Deficiency	AD,AR	99.98	164 of 166
*SMAD3*	Loeys-Dietz Syndrome, Aneurysm- Osteoarthritis Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection	AD	100	128 of 128
*SMAD4*	Polyposis Syndrome, Myhre Syndrome, Pancreatic Cancer, Thoracic Aortic Aneurysm, Aortic Dissection, Hemorrhagic Telangiectasia	AD	99.56	136 of 136
*STK11*	Pancreatic Cancer, Peutz-Jeghers Syndrome, Testicular Tumor	AD	81.99	456 of 470
*TGFBR1*	Loeys-Dietz Syndrome, Self-Healing Squamous Epithelioma, Thoracic Aortic Aneurysm, Aortic Dissection	AD	94	96 of 100
*TGFBR2*	Colorectal Cancer, Esophageal Cancer, Loeys- Dietz Syndrome, Thoracic Aortic Aneurysm, Aortic Dissection, Lynch Syndrome	AD	99.9	165 of 166
*TMEM43*	Arrhythmogenic Right Ventricular Dysplasia, Emery- Dreifuss Muscular Dystrophy	AD	99.98	26 of 26
*TNNI3*	Cardiomyopathy	AD,AR	100	139 of 139
*TNNT2*	Cardiomyopathy	AD	100	169 of 169
*TP53*	Adrenocortical Carcinoma, Osteosarcoma, Li-Fraumeni Syndrome, Basal Cell Carcinoma, Bone Marrow Failure Syndrome, Glioma Susceptibility, Papilloma Of Choroid Plexus, Thrombocythemia	AD,MU,P	98.92	557 of 563
*TPM1*	Cardiomyopathy	AD	100	108 of 108
*TSC1*	Focal Cortical Dysplasia Of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis	AD	99.86	390 of 406
*TSC2*	Focal Cortical Dysplasia Of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis	AD	100	1157 of 1159
*VHL*	Erythrocytosis, Pheochromocytoma, Renal Cell Carcinoma, Von Hippel-Lindau Syndrome, Paraganglioma	AD,AR	100	511 of 544
*WT1*	Aniridia, Denys- Drash Syndrome, Frasier Syndrome, Mesothelioma, Nephrotic Syndrome , Wilms Tumor, Gonadal Dysgenesis, Meacham Syndrome, Nephroblastoma, Wagr Syndrome	AD	98.92	178 of 185

* 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

References

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