Spieraandoeningen genpanel v2 (148 genen)

Transcription

1 Spieraandoeningen genpanel v2 (148 genen) Gene ACADVL 99,8 VLCAD deficiency, ACTA1 99,1 Nemaline myopathy 3, autosomal dominant or recessive, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, actin, congenital, with cores, Myopathy, congenital, with fiber-type disproportion 1, ACVR1 100,0 Fibrodysplasia ossificans progressiva, AGL 99,9 Glycogen storage disease IIIa, Glycogen storage disease IIIb, AGRN 99,0 Myasthenia, limb-girdle, familial, ANO5 100,0 Gnathodiaphyseal dysplasia, Muscular dystrophy, limb-girdle, type 2L, Miyoshi muscular dystrophy 3, ATP2A1 100,0 Brody myopathy, ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3, B3GALNT2 93,9 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies,type A,11, B4GAT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, BAG3 100,0 Myopathy, myofibrillar, 6, Cardiomyopathy, dilated, 1HH, BICD2 95,2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, BIN1 99,8 Myopathy, centronuclear, autosomal recessive, CACNA1S 99,9 Hypokalemic periodic paralysis, type 1, {Malignant hyperthermia susceptibility 5}, CAPN3 100,0 Muscular dystrophy, limb-girdle, type 2A, CASQ1 95,6 Myopathy,vacuolar,with CASQ1 aggregates, CAV3 100,0 Muscular dystrophy, limb-girdle, type IC, Rippling muscle disease, Creatine phosphokinase, elevated serum, Myopathy, distal, Tateyama type, Cardiomyopathy, familial hypertrophic, Long QT syndrome-9, CCDC78 100,0 Myopathy, centronuclear, 4, CFL2 21,6 Nemaline myopathy 7, autosomal recessive, CHAT 99,0 Myasthenic syndrome, congenital, associated with episodic apnea, CHCHD10 91,9?Myopathy,isolated mitochondrial,autosomal dominant, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy,jokela type, CHKB 99,8 Muscular dystrophy, congenital, megaconial type, CHRNA1 99,2 Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, Multiple pterygium syndrome, lethal type, CHRNB1 100,0 Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, CHRND 63,0 Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, Multiple pterygium syndrome, lethal type, CHRNE 100,0 Myasthenic syndrome, slow-channel congenital, Myasthenic syndrome, fast-channel congenital, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, CLCN1 99,7 Myotonia congenita, recessive, Myotonia congenita, dominant, Myotonia levior, recessive CNTN1 100,0 Myopathy, congenital, Compton-North, COL12A1 99,7 {Lung cancer, susceptibility to, association with}(rudd (2006) Genome Res 16,693) Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353) Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) COL13A1 Myasthenic syndrome, congenital, 19, COL6A1 100,0 Bethlem myopathy, {Ossification of the posterior longitudinal spinal ligaments}, (2) COL6A2 99,7 Bethlem myopathy, Myosclerosis, congenital, COL6A3 100,0 Bethlem myopathy, COLQ 100,0 Endplate acetylcholinesterase deficiency,

2 CPT2 100,0 Myopathy due to CPT II deficiency, CPT deficiency, hepatic, type II, CPT II deficiency, lethal neonatal, {Encephalopathy, acute, infection-induced, 4, susceptibility to}, CRYAB 100,0 Myopathy, myofibrillar, 2, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related, Cardiomyopathy, dilated, 1II, DAG1 99,9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, DES 100,0?Muscular dystrophy, limb-girdle, type 2R, Cardiomyopathy, dilated, 1I, Myopathy, myofibrillar, 1, Scapuloperoneal syndrome, neurogenic, Kaeser type, DMD 99,9 Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiomyopathy, dilated, 3B, DNA2?Seckel syndrome 8, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, DNAJB6 99,9 Muscular dystrophy, limb-girdle, type 1E, DNM2 100,0 Charcot-Marie-Tooth disease, dominant intermediate B, Myopathy, centronuclear, Charcot-Marie-Tooth disease, axonal, type 2M, Lethal congenital contracture syndrome 5, DOK7 99,8 Myasthenia, limb-girdle, familial, Fetal akinesia deformation sequence, DPAGT1 100,0 Congenital disorder of glycosylation, type Ij, Myasthenic syndrome, congenital, with tubular aggregates 2, DPM1 Congenital disorder of glycosylation, type Ie, DPM2 100,0 Congenital disorder of glycosylation, type Iu, DPM3 100,0 Congenital disorder of glycosylation, type Io, DYNC1H1 100,0 Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant, AD, DYSF 99,2 Muscular dystrophy, limb-girdle, type 2B, Myopathy, distal, with anterior tibial onset, Miyoshi muscular dystrophy 1, ECEL1 99,6 Arthrogryposis, distal, type 5D, EMD 99,7 Emery-Dreifuss muscular dystrophy 1, X-linked, ENO3 100,0 Glycogen storage disease XIII, ERBB3 99,7 Lethal congenital contractural syndrome 2, EXOSC8 100,0 Pontocerebellar hypoplasia, type 1C, FAM111B 100,0 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy and pulmonary fibrosis, FHL1 47,9 Hemophagocytic lymphohistiocytosis, familial, 1 (2) FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2, FKRP 100,0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, FKTN 100,0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Cardiomyopathy, dilated, 1X, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, FLNC 99,8 Myopathy, myofibrillar, 5, Myopathy, distal, 4, GAA 100,0 Glycogen storage disease II, GBE1 99,7 Glycogen storage disease IV, Polyglucosan body disease, adult form, GFPT1 99,9 Myasthenia, congenital, with tubular aggregates 1, GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, GNE 100,0 Sialuria, Inclusion body myopathy, autosomal recessive, Nonaka myopathy, GYG1 96,7 Glycogen storage disease XV, GYS1 73,4 Glycogen storage disease 0, muscle, HSPG2 99,2 Schwartz-Jampel syndrome, type 1, Dyssegmental dysplasia, Silverman-Handmaker type, IGHMBP2 98,8 Neuronopathy, distal hereditary motor, type VI, ISCU 100,0 Myopathy with lactic acidosis, hereditary, ISPD 95,6 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, ITGA7 100,0 Muscular dystrophy, congenital, due to ITGA7 deficiency, KBTBD13 95,2 Nemaline myopathy 6, autosomal dominant,

3 KCNJ2 100,0 Andersen syndrome, Short QT syndrome-3, Atrial fibrillation, familial, 9, KLHL40 Nemaline myopathy 8, autosomal recessive, KLHL41 100,0 Nemaline myopathy 9, KLHL9 100,0 No OMIM phenotype Myopathy, distal, early-onset (Cirak (2010) Brain 133, 2123) LAMA2 99,6 Muscular dystrophy, congenital merosin-deficient, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, LAMP2 100,0 Danon disease, LARGE 100,0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, LDB3 99,6 Myopathy, myofibrillar, 4, Cardiomyopathy, dilated 1C, Left ventricular noncompaction 3, with or without dilated cardiomyopathy, LDHA 63,8 Glycogen storage disease XI, LMNA 99,8 Emery-Dreifuss muscular dystrophy 2, AD, Cardiomyopathy, dilated, 1A, Lipodystrophy, familial partial, 2, Emery-Dreifuss muscular dystrophy 3, AR, Charcot-Marie-Tooth disease, type 2B1, Muscular dystrophy, congenital, Muscular dystrophy, limb-girdle, type 1B, Mandibuloacral dysplasia, Hutchinson-Gilford progeria, Restrictive dermopathy, lethal, Heart-hand syndrome, Slovenian type, Malouf syndrome, LMOD3 98,6 Nemaline myopathy 10, LPIN1 99,9 Myoglobinuria, acute recurrent, autosomal recessive, MEGF10 99,5 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, MICU1 99,6 Myopathy with extrapyramidal signs, MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, MSTN 100,0 Muscle hypertrophy, MTM1 100,0 Myotubular myopathy, X-linked, MUSK 100,0 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, MYF6 99,9 Myopathy, centronuclear, 3, MYH2 100,0 Inclusion body myopathy-3, MYH3 99,9 Arthrogryposis, distal, type 2A, Arthrogryposis, distal, type 2B, MYH7 99,9 Cardiomyopathy, familial hypertrophic, 1, Cardiomyopathy, dilated, 1S, Myopathy, myosin storage, Laing distal myopathy, Scapuloperoneal syndrome, myopathic type, Left ventricular noncompaction 5, MYOT 100,0 Muscular dystrophy, limb-girdle, type 1A, Myopathy, myofibrillar, 3, Myopathy, spheroid body, NEB 99,5 Nemaline myopathy 2, autosomal recessive, ORAI1 96,4 Immunodeficiency 9, Myopathy,tubular aggregate, 2, PABPN1 97,1 Oculopharyngeal muscular dystrophy, PFKM 99,8 Glycogen storage disease VII, PGAM2 99,5 Glycogen storage disease X, PGK1 99,3 Phosphoglycerate kinase 1 deficiency, PGM1 100,0 Glycogen storage disease XIV, Congenital disorder of glycosylation, type It, PHKA1 99,9? Muscle glycogenosis, PIP5K1C 99,6 Lethal congenital contractural syndrome 3, PLEC 99,8 Muscular dystrophy with epidermolysis bullosa simplex, Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex with pyloric atresia, Muscular dystrophy, limb-girdle, type 2Q, PNPLA2 98,9 Neutral lipid storage disease with myopathy, POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, ,8 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, POMGNT2 99,7 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies,type A,8), POMK 100,0?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12,

4 POMT1 100,0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, POMT2 100,0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, PREPL?Myasthenic syndrome, congenital, 22, PRPS1 Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1, Gout, PRPS-related, Phosphoribosylpyrophosphate synthetase superactivity, PTRF 99,6 Lipodystrophy, congenital generalized, type 4, PYGM 99,7 McArdle disease, RAPSN 99,9 Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, Fetal akinesia deformation sequence, RBCK1 100,0 Polyglucosan body myopathy 1 with or without immunodeficiency, RYR1 98,9 {Malignant hyperthermia susceptibility 1}, Central core disease, Minicore myopathy with external ophthalmoplegia, Neuromuscular disease, congenital, with uniform type 1 fiber, King-Denborough syndrome, SCN4A 99,4 Hyperkalemic periodic paralysis, type 2, Paramyotonia congenita, Myotonia congenita, atypical, acetazolamide-responsive, Myasthenic syndrome, acetazolamide-responsive, Hypokalemic periodic paralysis, type 2, SEPN1 84,1 Muscular dystrophy, rigid spine, 1, Myopathy, congenital, with fiber-type disproportion, SGCA 99,9 Muscular dystrophy, limb-girdle, type 2D, SGCB 93,8 Muscular dystrophy, limb-girdle, type 2E, SGCD 100,0 Muscular dystrophy, limb-girdle, type 2F, Cardiomyopathy, dilated, 1L, SGCG 99,9 Muscular dystrophy, limb-girdle, type 2C, SLC18A2 SLC52A2 68,9 Brown-Vialetto-Van Laere syndrome 2, SLC52A3 100,0?Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1, SMCHD1 Bosma arhinia microphthalmia syndrome, Fascioscapulohumeral muscular dystrophy 2, digenic, SPEG 92,6 Centronuclear myopathy 5, STIM1 99,6 Immunodeficiency 10, Myopathy, tubular aggregate, 1, Stormorken syndrome, TCAP 100,0 Muscular dystrophy, limb-girdle, type 2G, Cardiomyopathy, dilated, 1N, TMEM5 100,0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, TNNI2 100,0 Arthrogryposis multiplex congenita, distal, type 2B, TNNT1 100,0 Nemaline myopathy 5, Amish type, TNPO3 67,6 Muscular dystrophy,limb-girdle,type 1F, TPM2 100,0 Arthrogryposis multiplex congenita, distal, type 1, Arthrogryposis, distal, type 2B, Nemaline myopathy 4, autosomal dominant, CAP myopathy 2, TPM3 45,0 Nemaline myopathy 1, autosomal dominant or recessive, CAP myopathy 1, Myopathy congenital, with fiber-type disproportion, TRAPPC11 100,0 Muscular dystrophy, limb-girdle, type 2S, TRIM32 100,0 Muscular dystrophy, limb-girdle, type 2H, Bardet-Biedl syndrome 11, TRPV4 100,0 Brachyolmia type 3, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Hereditary motor and sensory neuropathy, type IIc, Scapuloperoneal spinal muscular atrophy, [Sodium serum level QTL 1], Parastremmatic dwarfism, SED, Maroteaux type, Spinal muscular atrophy, distal, congenital nonprogressive, Digital arthropathy-brachydactyly, familial, TTC19 96,9 Mitochondrial complex III deficiency, nuclear type 2,

5 TTN 100,0 Cardiomyopathy, familial hypertrophic, 9, Cardiomyopathy, dilated, 1G, Tibial muscular dystrophy, tardive, Muscular dystrophy, limb-girdle, type 2J, Myopathy, proximal, with early respiratory muscle involvement, Myopathy, early-onset, with fatal cardiomyopathy, UBA1 99,8 Spinal muscular atrophy, X-linked 2, infantile, VCP 98,1 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, VIPAS39 99,9 Arthrogryposis, renal dysfunction, and cholestasis 2, VMA21 Myopathy, X-linked, with excessive autophagy, VRK1 100,0 Pontocerebellar hypoplasia type 1A, Gene symbols used follow HGCN guidelines Genomics 79(4): (2002) updated February 2014 Genes in bold are core genes OMIM release used for OMIM disease identifiers and descriptions : June 30th, 2015 No OMIM phenotype signifies a gene without a current OMIM association OMIM phenotype descriptions between {} signify risk factors