CPDx: Clinical Genetic Testing - ALS, Alzheimer's, Parkinson's



CARDIOMYOPATHY EXOME PANELGene InheritanceOMIMCardiomyopathy Associated PhenotypesOther PhenotypesHCMDCMARVCLVNCRCMCPVTABCC9AD601439?X????Atrial fibrillation, familial, 12 (AD); Hypertrichotic osteochondrodysplasia (AD); Cantu syndrome (AD)ACTC1 AD102540XX?XX?Atrial septal defect 5ACTN2AD102573XX?X???ANKRD1UNKN609599XX?????BAG3AD603883XX??X?Myopathy, myofibrillar, 6 (AD)CASQ2AD/AR114251???X?X?CAV3 AD601253XX???? Long QT syndrome 9 (AD) Myopathy, distal, Tateyama type (AD)CHRM2AD118493?X?????CRYABUNKN123590?X????Myopathy, myofibrillar (AD/AR)CSRP3AD600824XX????Myopathy with HCM (AD)DESAD125660?XX??XMuscular dystrophy, limb-girdle, type 2R (AD); Myopathy, myofibrillar, 1C (AR)DMDXL300377?X????Becker muscular dystrophy; Duchenne muscular dystrophy; Female carriers may develop isolated DCMDOLKAR610746?X?????DSC2AD 125645?XX??? DSG2AD 125671?XX????DSPAD 125647?XX???Epidermolysis bullosa, lethal acantholytic (AR); Carvajal syndrome (AR)DTNAAD601239???X???EMDXL300384?X????Emery-Dreifuss muscular dystrophy 1FHL2UNKN602633?X?????FKTNAR607440?X???? Muscular dystrophy, type A4 (AR)GAAAR606800X?????Glycogen storage disease II (AR)GATAD1AR614518?X?????GLAXL300644X?????Fabry diseaseILKUNKN602366?X?????JPH2AD605267X??????JUPAD173325?XX???Naxos disease (AR)LAMA4AD600133?X?????LAMP2XL309060XX????Danon disease LDB3AD 605906XX?X??Myopathy, myofibrillar, 4LMNAAD 150330?X?X??See OMIM for other associated phenotypes MURCAD??X?????MYBPC3AD600958XX?XX??MYH6AD160710XX????Atrial septal defect 3 (AD) MYH7 AD 160760XX?XX?Liang distal myopathy, (AD); Myopathy, myosin storage, (AD); Myopathy, myosin storage (AR)MYL2AD160781X??????MYL3AD160790X???X??MYLK2AD606566X??????MYOZ2AD605602X??????MYPNAD608517XX??X??NEBLUNKN605491?X?????NEXNUNKN613121XX?X???PDLIM3UNKN605889XXX????PKP2AD602861?XX????PLNAD172405XXX????PRDM16AD605557?X?X???PRKAG2AD602743XX????Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndromePSEN1AD104311?X?????PSEN2AD600759?X?????RBM20AD613171?X?????RYR2AD180902X?X??X?SCN5AAD600163?XX???Brugada syndrome 1 (AD); Long QT syndrome-3 (AD)SGCDAD601411?X????Muscular dystrophy, limb-girdle, type 2F (AR)TAZXL300394?X?X??Barth syndrome TCAPAD 604488X?????Muscular dystrophy, limb-girdle, type 2G (AR)TMEM43AD612048??X???Emery-Dreifuss muscular dystrophy 7TMPOAD188380?X?????TNNC1AD191040XX?????TNNI3AD 191044XX??X??TNNT2AD191045XX?XX??TRDNAR603283?????X?TTNAD188840XXX???Muscular dystrophy, limb-girdle (AR); Tibial muscular dystrophy (AD/AR), HMERF (AD), Centronuclear myopathy (AR)TTRAD176300XX????AmyloidosisVCLAD193065XX?X???BRAFAD164757X?????Cardiofaciocutaneous syndrome; Noonan syndrome; LEOPARD syndromeCBLAD165360X?????Noonan syndromeHRASAD190020X?????Costello syndromeKRASAD190070X?????Cardiofaciocutaneous syndrome; Noonan syndromeNRASAD 164790X?????Noonan syndromePTPN11AD176876X?????Noonan syndrome; LEOPARD syndromeRAF1AD164760XX????Noonan syndrome; LEOPARD syndromeRIT1AD609591X?????Noonan syndromeSHOC2AD602775X?????Noonan syndromeSOS1AD182530X?????Noonan syndrome MAP2K1AD176872X?????Cardiofaciocutaneous syndromeMAP2K2AD601263X?????Cardiofaciocutaneous syndromeHCM = Hypertrophic cardiomyopathy; DCM = Dilated cardiomyopathy; ARVC =Arrythmogenic right ventricular dysplasia; LVNC = Left ventricular non-compaction; RCM = Restrictive cardiomyopathy; CPVT = Catecholaminergic polymorphic ventricular tachycardia ................
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