Klinische FragestellungKardiomyopathie, restriktive; Differentialdiagnose

NGS +

• Allelic: Alzheimer disease, susceptibility to (HFE)
• Allelic: Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Allelic: Atrial fibrillation, familial, 12 (ABCC9)
• Allelic: Atrial septal defect 3 (MYH6)
• Allelic: Atrial septal defect 5 (ACTC1)
• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
• Allelic: Intellectual disability + myopathy syndrome (ABCC9)
• Allelic: Laing distal myopathy(MYH7)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability (BMP7)
• Allelic: Microvascular complications of diabetes 7 (HFE)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, myofibrillar, 1 (DES)
• Allelic: Myopathy, myofibrillar, 2 (CRYAB)
• Allelic: Myopathy, myofibrillar, 3 (MYOT)
• Allelic: Myopathy, myofibrillar, 4 (LDB3)
• Allelic: Myopathy, myofibrillar, 5 (FLNC)
• Allelic: Myopathy, myofibrillar, 6 (BAG3)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Allelic: Myopathy, myosin storage, AD (MYH7)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Myopathy, spheroid body (MYOT)
• Allelic: Nemaline myopathy 11, AR (MYPN)
• Allelic: Porphyria cutanea tarda, susceptibility to (HFE)
• Allelic: Porphyria variegata, susceptibility to (HFE)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Allelic: Restrictive dermopathy 2 (LMNA)
• Allelic: Scapuloperoneal myopathy, XLD (FHL1)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Sick sinus syndrome 3 (MYH6)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Allelic: Transferrin serum level QTL2 (HFE)
• Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
• Barth syndrome (TAFAZZIN)
• Cardiomyopathy, dilated, 1A (LMNA)
• Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Cardiomyopathy, dilated, 1D (TNNT2)
• Cardiomyopathy, dilated, 1EE (MYH6)
• Cardiomyopathy, dilated, 1FF (TNNI3)
• Cardiomyopathy, dilated, 1G (TTN)
• Cardiomyopathy, dilated, 1HH (BAG3)
• Cardiomyopathy, dilated, 1I (DES)
• Cardiomyopathy, dilated, 1II (CRYAB)
• Cardiomyopathy, dilated, 1KK (MYPN)
• Cardiomyopathy, dilated, 1MM (MYBPC3)
• Cardiomyopathy, dilated, 1O (ABCC9)
• Cardiomyopathy, dilated, 1R (ACTC1)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, dilated, 1Y (TPM1)
• Cardiomyopathy, dilated, 1Z (TNNC1)
• Cardiomyopathy, dilated, 2A (TNNI3)
• Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Cardiomyopathy, familial restrictive, 1 (TNNI3)
• Cardiomyopathy, familial restrictive, 3 (TNNT2)
• Cardiomyopathy, familial restrictive, 4 (MYPN)
• Cardiomyopathy, familial restrictive, 5 (FLNC)
• Cardiomyopathy, familial restrictive, 6 (KIF20A)
• Cardiomyopathy, hypertrophic [MONDO:0005045, panelapp] (TRIM63)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Cardiomyopathy, hypertrophic, 10 (MYL2)
• Cardiomyopathy, hypertrophic, 11 (ACTC1)
• Cardiomyopathy, hypertrophic, 13 (TNNC1)
• Cardiomyopathy, hypertrophic, 14 (MYH6)
• Cardiomyopathy, hypertrophic, 2 (TNNT2)
• Cardiomyopathy, hypertrophic, 22 (MYPN)
• Cardiomyopathy, hypertrophic, 24 (LDB3)
• Cardiomyopathy, hypertrophic, 3 (TPM1)
• Cardiomyopathy, hypertrophic, 4 (MYBPC3)
• Cardiomyopathy, hypertrophic, 7 (TNNI3)
• Cardiomyopathy, hypertrophic, 8 (MYL3)
• Cardiomyopathy, restrictive [MONDO:0005201, panelapp] (TRIM63)
• Congenital myopathy 5 with cardiomyopathy (TTN)
• Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
• Heart-hand syndrome, Slovenian type (LMNA)
• Hemochromatosis (HFE)
• Hemochromatosis, type 3 (TFR2)
• Hemochromatosis, type 4 (SLC40A1)
• Left ventricular noncompaction 10 (MYBPC3)
• Left ventricular noncompaction 3 (LDB3)
• Left ventricular noncompaction 4 (ACTC1)
• Left ventricular noncompaction 5 (MYH7)
• Left ventricular noncompaction 6 (TNNT2)
• Left ventricular noncompaction 9 (TPM1)
• Malouf syndrome (LMNA)
• Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
• Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MYL2)
• Pseudoxanthoma elasticum (ABCC6)