Klinische Fragestellung"Actionable genes 3.2" [ACMG inheritance]

AP3394_DH

illness_ClinicalComment_AP3394

• 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)