Klinische Fragestellung"Actionable genes 3.2" [ACMG inheritance]

NGS + {Sanger[

Gemäß den Empfehlungen des American College of Genetics and Genomics (ACMG) sollten molekulargenetische Befunde in 81 medizinisch relevanten Genen den getesteten Personen mitgeteilt werden, da auf der Grundlage dieser Befunde Entscheidungen über die medizinische Versorgung getroffen werden können. Dieses panel erlaubt die Identifizierung von Genvarianten, die schwerwiegende Erkrankungen wie z.B. Herz- und Krebsleiden auslösen können, für die präventive Maßnahmen zur Verfügung stehen. Nachdem die Ratsuchenden sich über medizinisch verwertbare Befunde informiert haben, können sie im Rahmen einer genetischer Beratung besprechen, wie sich diese Befunde auf ihre Gesundheit und die ihrer Familie auswirken können. Diese Gen-Befunde stehen im Zusammenhang mit Erkrankungen, bei denen medizinische Empfehlungen für den jeweiligen Patienten bestehen. Referenz: https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/

• ACMG 73; ACMG 78; ACMG 81
• Actionable gene alterations
• Actionable genes 3.1
• Actionable mutations
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Adenomas, multiple colorectal (MUTYH)
• Adenomatous polyposis coli; Gardner syndrome ()APC)
• Amyloidosis, hereditary, transthyretin-related (TTR)
• Aortic aneurysm, familial thoracic 4 (MYH11)
• Aortic aneurysm, familial thoracic 6 (ACTA2)
• Arrhythmogenic right ventricular dysplasia 10; Cardiomyopathy, dilated, 1BB (DSG2)
• Arrhythmogenic right ventricular dysplasia 11 (DSC2)
• Arrhythmogenic right ventricular dysplasia 2; Ventr. tachycardia, catecholaminergic polym., 1 (RYR2)
• Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7 (TMEM43)
• Arrhythmogenic right ventricular dysplasia 8 (DSP)
• Arrhythmogenic right ventricular dysplasia 9 (PKP2)
• Biotinidase deficiency (BTD)
• Bone marrow failure syndrome 5; Li-Fraumeni syndrome (TP53)
• Breast cancer, susceptibility to; Pancreatic cancer, susceptibility to, 3 (PALB2)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Brugada s. 1; Cardiomyopathy, dilated, 1E; Long QT syndrome 3; Ventricular fibrillation, familial, 1
• Carcinoid tumor of lung; Multiple endocrine neoplasia 1 (MEN1)
• Cardiomyopathy, dil., 1G; Cardiomyop., fam. hypertr., 9; Muscular dystr., limb-girdle, AR 10 (TTN)
• Cardiomyopathy, dilated, 1A; Malouf syndrome (LMNA)
• Cardiomyopathy, dilated, 1D; Cardiomyop., familial restr., 3; Cardiomyop., hypertrophic, 2 (TNNT2)
• Cardiomyopathy, dilated, 1DD (RBM20)
• Cardiomyopathy, dilated, 1HH (BAG3)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Cardiomyopathy, dilated, 1R; Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3 (TPM1)
• Cardiomyopathy, dilated, 1Z (TNNC1)
• Cardiomyopathy, dilated, 2A, 1FF; Cardiomyop., familial restr., 1; Cardiomyop., hypertr., 7 (TNNi3)
• Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 (FLNC)
• Cardiomyopathy, hypertrophic 6 (PRKAG2)
• Cardiomyopathy, hypertrophic, 10 (MYL2)
• Cardiomyopathy, hypertrophic, 13 (TNNC1)
• Cardiomyopathy, hypertrophic, 8 (MYL3)
• Carpal tunnel syndrome, familial (TTR)
• Clinically actionable variants
• Cowden syndrome 1; Lhermitte-Duclos syndrome (PTEN)
• Denys-Drash syndrome; Frasier syndrome; Meacham syndrome; Nephrotic syndrome, type 4 (WT1)
• Diabetes mellitus, insulin-dependent, 20; MODY, type III; renal cell carcinoma (HNF1A)
• Dystransthyretinemic hyperthyroxinemia (TTR)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Erythrocytosis, familial, 2; Pheochromocytoma; von Hippel-Lindau syndrome (VHL)
• Fabry disease, incl. cardiac variant (GLA)
• Glycogen storage disease II (GAA)
• Hemochromatosis (HFE)
• Hypercholesterolemia, familial, 1 (LDLR)
• Hypercholesterolemia, familial, 2 (APOB)
• Hypercholesterolemia, familial, 3 (PCSK9)
• Hypokalemic periodic paralysis, type 1; Malignant hyperthermia susceptibility 5 (CACNA1S)
• Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Long QT syndrome 14 (CALM1)
• Long QT syndrome 15 (CALM2)
• Long QT syndrome 16 (CALM3)
• Long QT syndrome 1; Short QT syndrome 2 (KCNQ1)
• Long QT syndrome 2; Short QT syndrome 1 (KCNH2)
• Malignant hyperthermia susceptibility 1; King-Denborough syndrome (RYR1)
• Marfan syndrome (FBN1)
• Medically actionable findings
• Medically actionable secondary findings
• Medullary thyroid carcinoma; Multiple endocrine neoplasia IIA + IIB; Pheochromocytoma (RET)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Myopathy, myofibr., 9, early respiratory failure; Salih myopathy; Tibial musc. dystr., tard. (TTN)
• Myopathy, myofibrillar, 6 (BAG3)
• Neurofibromatosis, type 2 (NF2)
• Ornithine transcarbamylase deficiency (OTC)
• Paragangliomas 1 [+/-deafness]; Paraganglioma + gastric stromal sarcoma; Pheochromocytoma (SDHD)
• Paragangliomas 2 (SDHAF2)
• Paragangliomas 3; Paraganglioma + gastric stromal sarcoma (SDHC)
• Paragangliomas 4; Paraganglioma + gastric stromal sarcoma; Pheochromocytoma (SDHB)
• Peutz-Jeghers syndrome (STK11)
• Pheochromocytoma, susceptibility to (MAX)
• Pheochromocytoma, susceptibility to (TMEM127)
• Polyposis syndrome, hereditary mixed, 2; Polyposis, juvenile intestinal (MAPR1A)
• Retinitis pigmentosa 20 (RPE65)
• Retinoblastoma (RB1)
• Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
• Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Ventricular tachycardia, catecholaminergic polymorphic 6 (CALM3)
• Ventricular tachycardia, catecholaminergic polymorphic, 2 (CASQ2)
• Ventricular tachycardia, catecholaminergic polymorphic, 4 (CALM1)
• Ventricular tachycardia, catecholaminergic polymorphic, 5, with/-out muscle weakness (TRDN)
• Wilson disease (ATP7B)