fetal akinesia deformation sequence (FADS) gene panel v6 (194 genen)

Transcription

1 fetal akinesia deformation sequence (FADS) gene panel v6 (194 genen) Gene % covered >30x Associated phenotype description and OMIM ID ACTA1?Myopathy, scapulohumeroperoneal, Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3, autosomal dominant or recessive, ACVR1 Fibrodysplasia ossificans progressiva, ADCY6?Lethal congenital contracture syndrome 8, ADGRG6 Lethal congenital contracture syndrome 9, AGL Glycogen storage disease IIIa, Glycogen storage disease IIIb, AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, ALG3 Congenital disorder of glycosylation, type Id, AMER1 Osteopathia striata with cranial sclerosis, ANO5 Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3, Muscular dystrophy, limb-girdle, type 2L, ASCC1?Spinal muscular atrophy with congenital bone fractures 2, Barrett esophagus/esophageal adenocarcinoma, ATP1A3 Alternating hemiplegia of childhood 2, CAPOS syndrome, Dystonia-12, ATP2A1 Brody myopathy, ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3, B3GALNT2 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 Cardiomyopathy, dilated, 1HH, Myopathy, myofibrillar, 6, BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, BIN1 Centronuclear myopathy 2, CACNA1S Hypokalemic periodic paralysis, type 1, {Malignant hyperthermia susceptibility 5}, {Thyrotoxic periodic paralysis, susceptibility to, 1}, CACNB2 Brugada syndrome 4, CAPN3 Muscular dystrophy, limb-girdle, type 2A, CASQ1 Myopathy, vacuolar, with CASQ1 aggregates, CAV3 Cardiomyopathy, familial hypertrophic, Creatine phosphokinase, elevated serum, Long QT syndrome 9, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease, CCDC78?Centronuclear myopathy 4, CFL2 Nemaline myopathy 7, autosomal recessive, CHAT CHCHD10?Myopathy, isolated mitochondrial, autosomal dominant, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela type, CHKB Muscular dystrophy, congenital, megaconial type, CHRNA1 Multiple pterygium syndrome, lethal type, Myasthenic syndrome, congenital, 1A, slow-channel, Myasthenic syndrome, congenital, 1B, fast-channel, CHRNB1?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, 2A, slow-channel, CHRND?Myasthenic syndrome, congenital, 3A, slow-channel, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, Multiple pterygium syndrome, lethal type, Myasthenic syndrome, congenital, 3B, fast-channel, CHRNE Myasthenic syndrome, congenital, 4A, slow-channel, Myasthenic syndrome, congenital, 4B, fast-channel, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, CHRNG Escobar syndrome, Multiple pterygium syndrome, lethal type, CHST14 Ehlers-Danlos syndrome, musculocontractural type 1, CLCN1 Myotonia congenita, dominant, Myotonia congenita, recessive, Myotonia levior, recessive CNTN1?Myopathy, congenital, Compton-North, CNTNAP1 Lethal congenital contracture syndrome 7,

2 COL12A1?Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2, COL13A1 Myasthenic syndrome, congenital, 19, COL6A1 Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, COL6A2?Myosclerosis, congenital, Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, COL6A3 Bethlem myopathy 1, Ullrich congenital muscular dystrophy 1, Dystonia 27, COLQ Myasthenic syndrome, congenital, 5, CPT2 CPT II deficiency, infantile, CPT II deficiency, lethal neonatal, CPT II deficiency, myopathic, stress-induced, {Encephalopathy, acute, infection-induced, 4, susceptibility to}, CRYAB Cardiomyopathy, dilated, 1II, Cataract 16, multiple types, Myopathy, myofibrillar, 2, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related, DAG1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, DENND5A Epileptic encephalopathy, early infantile, 49, DES?Muscular dystrophy, limb-girdle, type 2R, Cardiomyopathy, dilated, 1I, Myopathy, myofibrillar, 1, Scapuloperoneal syndrome, neurogenic, Kaeser type, DHCR24 Desmosterolosis, DMD Becker muscular dystrophy, Cardiomyopathy, dilated, 3B, Duchenne muscular dystrophy, DMPK Myotonic dystrophy 1, DNA2?Seckel syndrome 8, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, DNAJB6 Muscular dystrophy, limb-girdle, type 1E, DNM2 Centronuclear myopathy 1, Charcot-Marie-Tooth disease, axonal type 2M, Charcot-Marie-Tooth disease, dominant intermediate B, Lethal congenital contracture syndrome 5, DNM3 DOK7?Fetal akinesia deformation sequence, Myasthenic syndrome, congenital, 10, DPAGT1 Congenital disorder of glycosylation, type Ij, Myasthenic syndrome, congenital, 13, with tubular aggregates, DPM1 Congenital disorder of glycosylation, type Ie, DPM2 Congenital disorder of glycosylation, type Iu, DPM3 Congenital disorder of glycosylation, type Io, DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant 1, AD, DYSF Miyoshi muscular dystrophy 1, Muscular dystrophy, limb-girdle, type 2B, Myopathy, distal, with anterior tibial onset, ECEL1 Arthrogryposis, distal, type 5D, EGR2 Charcot-Marie-Tooth disease, type 1D, Dejerine-Sottas disease, Neuropathy, congenital hypomyelinating, 1, EMD Emery-Dreifuss muscular dystrophy 1, X-linked, ENO3?Glycogen storage disease XIII, ERBB3 Lethal congenital contractural syndrome 2, ERCC5 Cerebrooculofacioskeletal syndrome 3, Xeroderma pigmentosum, group G, Xeroderma pigmentosum, group G/Cockayne syndrome, ERCC6 Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome, type B, De Sanctis-Cacchione syndrome, Premature ovarian failure 11, UV-sensitive syndrome 1, {Lung cancer, susceptibility to}, {Macular degeneration, age-related, susceptibility to, 5,} EXOSC8 Pontocerebellar hypoplasia, type 1C, FAM111B Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, FAM20C Raine syndrome,

3 FBN2 Contractural arachnodactyly, congenital, Macular degeneration, early-onset, FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Bent bone dysplasia syndrome, Craniofacial-skeletal-dermatologic dysplasia, Craniosynostosis, nonspecific Crouzon syndrome, Gastric cancer, somatic, Jackson-Weiss syndrome, LADD syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, Scaphocephaly and Axenfeld-Rieger anomaly Scaphocephaly, maxillary retrusion, and mental retardation, FHL1?Uruguay faciocardiomusculoskeletal syndrome, Emery-Dreifuss muscular dystrophy 6, X-linked, Myopathy, X-linked, with postural muscle atrophy, Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, Reducing body myopathy, X-linked 1b, with late childhood or adult onset, Scapuloperoneal myopathy, X-linked dominant, FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2, FKRP 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 Cardiomyopathy, dilated, 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, FLNC Cardiomyopathy, familial hypertrophic, 26 Cardiomyopathy, familial restrictive 5, Myopathy, distal, 4, Myopathy, myofibrillar, 5, FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, {Diabetes mellitus, type I, susceptibility to}, GAA Glycogen storage disease II, GBA Gaucher disease, perinatal lethal, Gaucher disease, type I, Gaucher disease, type II, Gaucher disease, type III, Gaucher disease, type IIIC, {Lewy body dementia, susceptibility to}, {Parkinson disease, late-onset, susceptibility to}, GBE1 Glycogen storage disease IV, Polyglucosan body disease, adult form, GFPT1 Myasthenia, congenital, 12, with tubular aggregates, GLDN Lethal congenital contracture syndrome 11, GLE1 Arthrogryposis, lethal, with anterior horn cell disease, Lethal congenital contracture syndrome 1, GNE Nonaka myopathy, Sialuria, GYS1 Glycogen storage disease 0, muscle, HNRNPH1 HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, Schwartz-Jampel syndrome, type 1, IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, Neuronopathy, distal hereditary motor, type VI, IRF6 Popliteal pterygium syndrome 1, van der Woude syndrome, {Orofacial cleft 6}, ISCU Myopathy with lactic acidosis, hereditary, ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, KBTBD13 Nemaline myopathy 6, autosomal dominant, KCNJ2 Andersen syndrome, Atrial fibrillation, familial, 9, Short QT syndrome 3, KLHL40 Nemaline myopathy 8, autosomal recessive, KLHL41 Nemaline myopathy 9, KLHL9 LAMA2 Muscular dystrophy, congenital merosin-deficient, Muscular dystrophy, congenital, due to partial LAMA2 deficiency,

4 LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, Pierson syndrome, LAMP2 Danon disease, LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, anomalies), type A, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, Cardiomyopathy, hypertrophic, 24, Left ventricular noncompaction 3, Myopathy, myofibrillar, 4, LDHA Glycogen storage disease XI, LMNA Cardiomyopathy, dilated, 1A, Charcot-Marie-Tooth disease, type 2B1, Emery-Dreifuss muscular dystrophy 2, AD, Emery-Dreifuss muscular dystrophy 3, AR, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford progeria, Lipodystrophy, familial partial, type 2, Malouf syndrome, Mandibuloacral dysplasia, Muscular dystrophy, congenital, Muscular dystrophy, limb-girdle, type 1B, Restrictive dermopathy, lethal, LMOD3 Nemaline myopathy 10, LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, MAGEL2 Schaaf-Yang syndrome, MATR3 Amyotrophic lateral sclerosis 21, MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, MICU1 Myopathy with extrapyramidal signs, MPZ Charcot-Marie-Tooth disease, dominant intermediate D, Charcot-Marie-Tooth disease, type 1B, Charcot-Marie-Tooth disease, type 2I, Charcot-Marie-Tooth disease, type 2J, Dejerine-Sottas disease, Neuropathy, congenital hypomyelinating, Roussy-Levy syndrome, MSTN Muscle hypertrophy, MTM1 Myotubular myopathy, X-linked, MTMR14 {Centronuclear myopathy, autosomal, modifier of}, MUSK Fetal akinesia deformation sequence, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MYBPC1 Arthrogryposis, distal, type 1B, Lethal congenital contracture syndrome 4, MYBPC2 MYF6 Centronuclear myopathy 3, MYH2 Proximal myopathy and ophthalmoplegia, MYH3 Arthrogryposis, distal, type 2A, Arthrogryposis, distal, type 2B, Arthrogryposis, distal, type 8, MYH7 Cardiomyopathy, dilated, 1S, Cardiomyopathy, hypertrophic, 1, Laing distal myopathy, Left ventricular noncompaction 5, Myopathy, myosin storage, autosomal dominant, Myopathy, myosin storage, autosomal recessive, Scapuloperoneal syndrome, myopathic type, MYH8 Carney complex variant, Trismus-pseudocamptodactyly syndrome, MYOD1 MYOT Muscular dystrophy, limb-girdle, type 1A, Myopathy, myofibrillar, 3, Myopathy, spheroid body, NEB Nemaline myopathy 2, autosomal recessive, NEK9?Arthrogryposis, Perthes disease, and upward gaze palsy, Lethal congenital contracture syndrome 10, Nevus comedonicus, somatic, ORAI1 Immunodeficiency 9, Myopathy, tubular aggregate, PABPN1 Oculopharyngeal muscular dystrophy, PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, PFKM Glycogen storage disease VII, PGAM2 Glycogen storage disease X, PGK1 Phosphoglycerate kinase 1 deficiency,

5 PGM1 Congenital disorder of glycosylation, type It, PHKA1 Muscle glycogenosis, PIGH PIP5K1C Lethal congenital contractural syndrome 3, PLEC?Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with muscular dystrophy, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, Muscular dystrophy, limb-girdle, type 2Q, PNPLA2 Neutral lipid storage disease with myopathy, POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Retinitis pigmentosa 76, POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, POMK?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, POMT1 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 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, PRPS1 Arts syndrome XLR 3 Charcot-Marie-Tooth disease, X-linked recessive, XLR 3 Deafness, X-linked 1, Gout, PRPS-related, Phosphoribosylpyrophosphate synthetase superactivity, PTRF Lipodystrophy, congenital generalized, type 4, PYGM McArdle disease, RAC1 Mental retardation, autosomal dominant 48, RAPSN Fetal akinesia deformation sequence, Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency, RHEB RIPK4 Popliteal pterygium syndrome, Bartsocas-Papas type, RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), Mitochondrial DNA depletion syndrome 8B (MNGIE type), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, RYR1 Central core disease, King-Denborough syndrome, Minicore myopathy with external ophthalmoplegia, Neuromuscular disease, congenital, with uniform type 1 fiber, {Malignant hyperthermia susceptibility 1}, SCN4A Hyperkalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 2, Myasthenic syndrome, congenital, 16, Myotonia congenita, atypical, acetazolamide-responsive, Paramyotonia congenita, SEPN1 Muscular dystrophy, rigid spine, 1, Myopathy, congenital, with fiber-type disproportion, SGCA Muscular dystrophy, limb-girdle, type 2D, SGCB Muscular dystrophy, limb-girdle, type 2E, SGCD Cardiomyopathy, dilated, 1L, Muscular dystrophy, limb-girdle, type 2F, SGCG Muscular dystrophy, limb-girdle, type 2C, SLC52A2 Brown-Vialetto-Van Laere syndrome 2, SLC52A3?Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1, SMCHD1 Bosma arhinia microphthalmia syndrome, Fascioscapulohumeral muscular dystrophy 2, digenic, SMN1 Spinal muscular atrophy-1, Spinal muscular atrophy-2, Spinal muscular atrophy-3, Spinal muscular atrophy-4, SPEG Centronuclear myopathy 5, STIM1 Immunodeficiency 10, Myopathy, tubular aggregate, 1, Stormorken syndrome, STX1B Generalized epilepsy with febrile seizures plus, type 9, SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Spinocerebellar ataxia, autosomal recessive 8, TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration,

6 TCAP Cardiomyopathy, hypertrophic, 25, Muscular dystrophy, limb-girdle, type 2G, TMEM5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, TNNT1 Nemaline myopathy 5, Amish type, TNNT3 Arthrogryposis, distal, type 2B, TNPO3 Muscular dystrophy, limb-girdle, type 1F, TPM2 Arthrogryposis multiplex congenita, distal, type 1, Arthrogryposis, distal, type 2B, CAP myopathy 2, Nemaline myopathy 4, autosomal dominant, TPM3 CAP myopathy 1, Myopathy, congenital, with fiber-type disproportion, Nemaline myopathy 1, autosomal dominant or recessive, TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, TRIM32?Bardet-Biedl syndrome 11, Muscular dystrophy, limb-girdle, type 2H, TRIP4?Muscular dystrophy, congenital, Davignon-Chauveau type, Spinal muscular atrophy with congenital bone fractures 1, TRPV4?Avascular necrosis of femoral head, primary, 2, Brachyolmia type 3, Digital arthropathy-brachydactyly, familial, Hereditary motor and sensory neuropathy, type IIc, Metatropic dysplasia, Parastremmatic dwarfism, Scapuloperoneal spinal muscular atrophy, SED, Maroteaux type, Spinal muscular atrophy, distal, congenital nonprogressive, Spondylometaphyseal dysplasia, Kozlowski type, [Sodium serum level QTL 1], TTC19 Mitochondrial complex III deficiency, nuclear type 2, TTN Cardiomyopathy, dilated, 1G, Cardiomyopathy, familial hypertrophic, 9, Muscular dystrophy, limb-girdle, type 2J, Myopathy, proximal, with early respiratory muscle involvement, Salih myopathy, Tibial muscular dystrophy, tardive, UBA1 Spinal muscular atrophy, X-linked 2, infantile, UTRN VAMP2 VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, Charcot-Marie-Tooth disease, type 2Y, Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, VIPAS39 Arthrogryposis, renal dysfunction, and cholestasis 2, VMA21 Myopathy, X-linked, with excessive autophagy, VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1, VRK1 Pontocerebellar hypoplasia type 1A, ZBTB33 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,? is unconfirmed data