XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  



  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AlportAlport Syndrome
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPK/CIPalmoplantar keratoderma / congenital ichthyosis
CS-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome

 
Rhabdomyolysis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACAD93q21.3100%gene with protein product611103Autosomal recessive inheritance; Cerebral edema; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased plasma carnitine; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; EMG: myopathic abnormalities; Encephalopathy; Exercise intolerance; Failure to thrive; Fatigable weakness; Generalized hypotonia; Generalized muscle weakness; Hepatic failure; Hepatic steatosis; Hyperammonemia; Hypertrophic cardiomyopathy; Hypoglycemia; Increased lactate dehydrogenase activity; Increased serum lactate; Lactic acidosis; Microvesicular hepatic steatosis; Muscle weakness; Myalgia; Prolonged prothrombin time; Stroke; ThrombocytopeniaRhabdomyolysis
ACADM1p31.199.99%gene with protein product607008Autosomal recessive inheritance; Cerebral edema; Coma; Decreased plasma carnitine; Elevated hepatic transaminases; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hepatomegaly; Hyperglycinuria; Hypoglycemia; Lethargy; Medium chain dicarboxylic aciduria; Metabolic acidosis; Seizures; VomitingRhabdomyolysis
ACADVL17p13.1100%gene with protein product609575Autosomal recessive inheritance; Decreased plasma carnitine; Dicarboxylic aciduria; Elevated serum creatine phosphokinase; Exercise-induced myalgia; Exercise-induced myoglobinuria; Exercise-induced rhabdomyolysis; Generalized hypotonia; Hepatic steatosis; Hepatocellular necrosis; Hepatomegaly; Hypertrophic cardiomyopathy; Lethargy; Muscle stiffness; Muscle weakness; Nonketotic hypoglycemia; Sudden cardiac death; Tachypnea; VomitingRhabdomyolysis
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
AGL1p21.2100%gene with protein product610860Autosomal recessive inheritance; Broad nasal tip; Cardiomyopathy; Deeply set eye; Depressed nasal bridge; Distal amyotrophy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Full cheeks; Hepatic fibrosis; Hepatomegaly; Hyperlipidemia; Hypertriglyceridemia; Hypoglycemia; Immunodeficiency; Intellectual disability, mild; Malar flattening; Midface retrusion; Muscle weakness; Myopathy; Short stature; Thin upper lip vermilion; Ventricular hypertrophyRhabdomyolysis
ALDOA16p11.2100%gene with protein product103850Autosomal recessive inheritance; Cholecystitis; Cholelithiasis; Delayed puberty; Epicanthus; Jaundice; Low posterior hairline; Nonspherocytic hemolytic anemia; Normochromic anemia; Normocytic anemia; Ptosis; Short neck; Short stature; SplenomegalyHemolytic Anemia ; Rhabdomyolysis
ANO511p14.399.21%gene with protein product608662TMEM16E, LGMD2LAdult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Broad jaw; Calf muscle hypertrophy; Diaphyseal cortical sclerosis; Difficulty climbing stairs; Difficulty running; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Increased susceptibility to fractures; Mandibular osteomyelitis; Muscular dystrophy; Myalgia; Osteopenia; Pelvic girdle muscle weakness; Progressive; Proximal muscle weakness; Quadriceps muscle atrophy; Shoulder girdle muscle weakness; Thickened cortex of long bones; Variable expressivityRhabdomyolysis
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B4GAT111q13.2100%gene with protein productFormer name = B3GNT1605517B3GNT6, B3GNT1Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anencephaly; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chorioretinal dysplasia; Congenital onset; Corneal opacity; Cortical dysplasia; Cryptorchidism; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Glaucoma; Global developmental delay; Hydrocephalus; Hydronephrosis; Hypoplasia of penis; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Micropenis; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Occipital encephalocele; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Spasticity; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
BAG310q26.11100%gene with protein product603883Autosomal dominant inheritance; Axonal loss; Congestive heart failure; Demyelinating peripheral neuropathy; Diaphragmatic paralysis; Dilated cardiomyopathy; Distal sensory impairment; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Generalized amyotrophy; Hypertrophic cardiomyopathy; Hyporeflexia; Knee flexion contracture; Muscular dystrophy; Myofibrillar myopathy; Nasal speech; Pes cavus; Rapidly progressive; Respiratory insufficiency; Scoliosis; Spinal rigidityRhabdomyolysis
CAPN315q15.199.97%gene with protein product114240LGMD2, LGMD2AAutosomal recessive inheritance; Clumsiness; Difficulty walking; Elevated serum creatine phosphokinase; Eosinophilia; Flexion contracture; Muscular dystrophy; Proximal amyotrophy; Scapular wingingRhabdomyolysis
CASQ11q23.299.93%gene with protein product114250CASQAutosomal dominant inheritance; Centrally nucleated skeletal muscle fibers; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatiguable weakness of proximal limb muscles; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber tubular inclusions; Muscle weakness; Myalgia; Myopathy; Proximal muscle weaknessRhabdomyolysis
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
CRYAB11q23.1100%gene with protein product123590CRYA2Adult onset; Apnea; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Decreased Achilles reflex; Dilated cardiomyopathy; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Flexion contracture; Foot dorsiflexor weakness; Hypertrophic cardiomyopathy; Late-onset proximal muscle weakness; Limb-girdle muscle weakness; Mitral regurgitation; Muscle fiber splitting; Muscular dystrophy; Neck muscle weakness; Posterior polar cataract; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Rigidity; Slow progression; Weak cryRhabdomyolysis
CTDP118q23100%gene with protein product604927Abnormal facial shape; Abnormality of peripheral nerve conduction; Abnormality of the cervical spine; Abnormality of the dentition; Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Babinski sign; Camptodactyly of finger; Cataract; Cerebral atrophy; Cerebral cortical atrophy; Chorea; Cognitive impairment; Congenital cataract; Decreased motor nerve conduction velocity; Decreased serum estradiol; Dysmetria; Genu recurvatum; Global developmental delay; Hypergonadotropic hypogonadism; Hypoglycemia; Hypogonadotrophic hypogonadism; Infantile onset; Intellectual disability; Intellectual disability, mild; Intention tremor; Intrauterine growth retardation; Kyphoscoliosis; Long eyelashes; Malar prominence; Microcornea; Micrognathia; Microphthalmia; Motor axonal neuropathy; Motor delay; Motor polyneuropathy; Nystagmus; Osteoporosis; Paresthesia; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Pes cavus; Short stature; Split hand; Strabismus; Talipes equinovarusRhabdomyolysis
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DGUOK2p13.1100%gene with protein product601465Abnormal conjugate eye movement; Adult onset; Ascites; Autosomal recessive inheritance; Cerebral atrophy; Cerebral cortical atrophy; Cognitive impairment; Decreased activity of mitochondrial respiratory chain; Depletion of mitochondrial DNA in liver; Distal muscle weakness; Dysphonia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized aminoaciduria; Generalized hypotonia; Growth delay; Hepatic failure; Hepatic steatosis; Hepatocellular necrosis; Hepatomegaly; Hyperbilirubinemia; Hyperreflexia; Hypoalbuminemia; Hypoglycemia; Hyporeflexia; Hypothermia; Increased serum lactate; Jaundice; Lactic acidosis; Microcephaly; Micronodular cirrhosis; Mitochondrial myopathy; Nystagmus; Peripheral axonal neuropathy; Periportal fibrosis; Polyneuropathy; Portal hypertension; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Splenomegaly; Thrombocytopenia; VomitingRhabdomyolysis
DMDXp21.2-p21.199.94%gene with protein product300377MRX85Abnormal urinary color; Adult onset; Arrhythmia; Calf muscle hypertrophy; Calf muscle pseudohypertrophy; Cardiomyopathy; Childhood onset; Cognitive impairment; Congestive heart failure; Delayed speech and language development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Falls; Fatigue; Flexion contracture; Generalized hypotonia; Global developmental delay; Gowers sign; Hyperlordosis; Hyporeflexia; Hypoventilation; Intellectual disability; Intellectual disability, mild; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Myalgia; Myoglobinuria; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Waddling gait; X-linked inheritance; X-linked recessive inheritanceObesity; Rhabdomyolysis
DNA210q21.3100%gene with protein product601810DNA2LAutosomal dominant inheritance; Autosomal recessive inheritance; Convex nasal ridge; Ectopic kidney; Elevated serum creatine phosphokinase; Exercise intolerance; Exertional dyspnea; Facial palsy; Gait disturbance; Generalized amyotrophy; Global developmental delay; Gowers sign; Intellectual disability; Kyphoscoliosis; Limb-girdle muscle weakness; Microcephaly; Micrognathia; Muscle cramps; Myalgia; Progressive external ophthalmoplegia; Ptosis; Short stature; Slender build; Slow progression; Spinal cord compressionRhabdomyolysis
DNAJB67q36.3100%gene with protein product611332LGMD1DAdult onset; Autosomal dominant inheritance; Difficulty climbing stairs; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; Generalized muscle weakness; Gowers sign; Increased variability in muscle fiber diameter; Muscle fiber splitting; Muscular dystrophy; Pelvic girdle muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Slow progression; Waddling gaitRhabdomyolysis
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
DPM29q34.11100%gene with protein product603564Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Elevated serum creatine phosphokinase; Feeding difficulties; Global developmental delay; High palate; Hypotelorism; Micrognathia; Myopathic facies; Optic atrophy; Postnatal microcephaly; Primitive reflex; Scoliosis; Seizures; Severe muscular hypotonia; Short nose; Strabismus; Thin upper lip vermilionRhabdomyolysis
DYSF2p13.2100%gene with protein product603009LGMD2BAdult onset; Autosomal recessive inheritance; Decreased Achilles reflex; Decreased/absent ankle reflexes; Difficulty climbing stairs; Difficulty running; Distal amyotrophy; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Heterogeneous; Increased connective tissue; Increased variability in muscle fiber diameter; Lower limb muscle weakness; Muscle fiber splitting; Muscle fibrillation; Muscular dystrophy; Proximal muscle weakness; Rapidly progressive; Slow progressionRhabdomyolysis
EMDXq28100%gene with protein product300384Abnormality of the neck; Achilles tendon contracture; Atrial arrhythmia; Atrioventricular block; Childhood onset; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Elbow flexion contracture; Elevated serum creatine phosphokinase; Juvenile onset; Pectus excavatum; Slow progression; Sudden cardiac death; Type 1 muscle fiber atrophy; Waddling gait; X-linked recessive inheritanceRhabdomyolysis
ENO317p13.2100%gene with protein product131370Adult onset; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased muscle glycogen content; MyalgiaRhabdomyolysis
ETFA15q24.2-q24.99.95%gene with protein product608053Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFB19q13.41100%gene with protein product130410Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFDH4q32.199.97%gene with protein product231675Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
FDX219p13.299.99%gene with protein productFormer name = FDX1L614585FDX1LRhabdomyolysis
FHL1Xq26.3100%gene with protein product300163Abnormality of the voice; Adult onset; Areflexia; Arrhythmia; Back pain; Brachyturricephaly; Broad nail; Broad palm; Camptodactyly of toe; Cardiomyopathy; Congenital hip dislocation; Dislocation of toes; Downslanted palpebral fissures; Elevated serum creatine phosphokinase; Everted lower lip vermilion; Flexion contracture; Foot dorsiflexor weakness; Frequent falls; Hallux valgus; Hyperlordosis; Hypertrophic cardiomyopathy; Hyporeflexia; Increased variability in muscle fiber diameter; Joint contracture of the hand; Kyphosis; Limited elbow movement; Low-set ears; Lower limb muscle weakness; Marked muscular hypertrophy; Mitral regurgitation; Myofibrillar myopathy; Posteriorly rotated ears; Progressive; Progressive pes cavus; Prominent supraorbital ridges; Proximal muscle weakness; Pugilistic facies; Rapidly progressive; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scapular winging; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Short neck; Skeletal muscle atrophy; Spinal rigidity; Steppage gait; Synophrys; Ventricular hypertrophy; Waddling gait; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritanceRhabdomyolysis
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FLAD11q21.3100%gene with protein product610595Autosomal recessive inheritance; Dysphagia; Exercise intolerance; Fatty replacement of skeletal muscle; Feeding difficulties; Generalized hypotonia; Myopathy; Organic aciduria; Phenotypic variability; Proximal muscle weakness; Respiratory insufficiencyRhabdomyolysis
FLNC7q32.1100%gene with protein product102565FLN2Abnormal peripheral nervous system morphology; Abnormality of the calf musculature; Adult onset; Autosomal dominant inheritance; Cardiomyopathy; Congestive heart failure; Difficulty climbing stairs; Distal lower limb amyotrophy; Distal upper limb amyotrophy; Dyspnea; Elevated serum creatine phosphokinase; Hyporeflexia; Mildly elevated creatine phosphokinase; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle weakness; Myofibrillar myopathy; Myopathy; Proximal muscle weakness; Respiratory insufficiency; Slow progression; Waddling gaitRhabdomyolysis
G6PDXq2899.99%gene with protein product305900Autosomal dominant inheritance; Fava bean-induced hemolytic anemia; Prolonged neonatal jaundice; Reticulocytosis; Unconjugated hyperbilirubinemia; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
GAA17q25.3100%gene with protein product606800Abnormal CNS myelination; Areflexia; Autosomal recessive inheritance; Cardiomegaly; Diaphragmatic paralysis; Dilatation of the cerebral artery; Dyspnea; Elevated serum creatine phosphokinase; Fever; Firm muscles; Generalized hypotonia; Hearing impairment; Hepatomegaly; Macroglossia; Proximal muscle weakness; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Shortened PR interval; Splenomegaly; Wolff-Parkinson-White syndromeRhabdomyolysis
GBE13p12.299.98%gene with protein product607839Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of metabolism/homeostasis; Abnormality of the cerebral white matter; Adult onset; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Cirrhosis; Cognitive impairment; Decreased fetal movement; Distal sensory impairment; Edema; Esophageal varix; Failure to thrive; Gait disturbance; Generalized hypotonia; Hemiparesis; Hepatic failure; Hepatosplenomegaly; Hydrops fetalis; Intellectual disability; Muscle weakness; Neurogenic bladder; Paresthesia; Peripheral axonal neuropathy; Polyhydramnios; Portal hypertension; Reduced tendon reflexes; Skeletal muscle atrophy; Skin ulcer; Slow progression; Spastic paraplegia; Spasticity; Tetraparesis; Tubulointerstitial fibrosis; Urinary bladder sphincter dysfunction; Urinary incontinenceRhabdomyolysis
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
GYG13q24100%gene with protein product603942GYGAbdominal wall muscle weakness; Autosomal recessive inheritance; Cardiomyocyte hypertrophy; Cardiomyopathy; Decreased muscle glycogen content; Decreased muscle mass; EMG: myopathic abnormalities; Exertional dyspnea; Foot dorsiflexor weakness; Increased mitochondrial number; Left ventricular septal hypertrophy; Limb-girdle muscle weakness; Muscle weakness; Neck flexor weakness; Palpitations; Right bundle branch block; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; ST segment elevation; T-wave inversion; Upper limb muscle weakness; Variable expressivity; Ventricular arrhythmia; Ventricular fibrillation; Ventricular hypertrophy; Ventricular tachycardia; VertigoRhabdomyolysis
GYS119q13.33100%gene with protein product138570GYSAutosomal recessive inheritance; Cardiomyopathy; Decreased muscle glycogen content; Exercise intolerance; Generalized tonic-clonic seizures; Left ventricular hypertrophyRhabdomyolysis
HADHA2p23.399.99%gene with protein product600890Abnormal electroretinogram; Abnormality of the amniotic fluid; Autosomal recessive inheritance; Cardiomyopathy; Congestive heart failure; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Dilated cardiomyopathy; Elevated hepatic transaminases; Exotropia; Failure to thrive; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Hepatomegaly; Hydrops fetalis; Hyperammonemia; Hypertrophic cardiomyopathy; Hypoglycemia; Hypoketotic hypoglycemia; Lactic acidosis; Muscular hypotonia; Myalgia; Myoglobinuria; Peripheral neuropathy; Photophobia; Pigmentary retinopathy; Prenatal maternal abnormality; Respiratory failure; Rhabdomyolysis; Small for gestational age; Sudden death; Visual lossRhabdomyolysis
HADHB2p23.399.92%gene with protein product143450Abnormality of the amniotic fluid; Autosomal recessive inheritance; Congestive heart failure; Dilated cardiomyopathy; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Hydrops fetalis; Hyperammonemia; Hypoketotic hypoglycemia; Lactic acidosis; Myalgia; Myoglobinuria; Peripheral neuropathy; Prenatal maternal abnormality; Respiratory failure; Rhabdomyolysis; Small for gestational ageRhabdomyolysis
HMBS11q23.3100%gene with protein product609806PBGD, UPS, PORCAbdominal pain; Abnormal urinary color; Acute episodes of neuropathic symptoms; Anorexia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Constipation; Depressivity; Diarrhea; Dysuria; Elevated urinary delta-aminolevulinic acid; Hepatocellular carcinoma; Hyperhidrosis; Hypertension; Hypertensive crisis; Insomnia; Muscle weakness; Myalgia; Nausea; Nausea and vomiting; Paralytic ileus; Paresthesia; Psychotic episodes; Respiratory paralysis; Seizures; Tachycardia; Urinary incontinence; Urinary retention; VomitingRhabdomyolysis
ISCU12q23.3100%gene with protein productThe common intronic variant is not detectable by XomeDxSlice.611911NIFUNAbnormal iron deposition in mitochondria; Autosomal recessive inheritance; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex II; Decreased activity of mitochondrial complex III; Dyspnea; Elevated serum creatine phosphokinase; Exercise intolerance; Increased intramyocellular lipid droplets; Increased serum lactate; Juvenile onset; Lactic acidosis; Mitochondrial myopathy; Muscle cramps; Muscle weakness; Myoglobinuria; Myopathy; Palpitations; Sideroblastic anemia; Subsarcolemmal accumulations of abnormally shaped mitochondriaRhabdomyolysis
ISPD7p21.299.96%gene with protein product614631Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Calf muscle hypertrophy; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Deeply set eye; Elevated serum creatine phosphokinase; Encephalocele; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Limb-girdle muscular dystrophy; Lissencephaly; Low-set ears; Macrocephaly; Macroglossia; Macrogyria; Metatarsus valgus; Microphthalmia; Microtia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Partial agenesis of the corpus callosum; Peters anomaly; Polymicrogyria; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retrognathia; Scapular winging; Skeletal muscle atrophy; Slow progression; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
ITGA712q13.2100%gene with protein product600536Autosomal recessive inheritance; Cognitive impairment; Congenital muscular dystrophy; Elevated serum creatine phosphokinase; Fatty replacement of skeletal muscle; Increased variability in muscle fiber diameter; Infantile muscular hypotonia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Myopathy; Neonatal hypotonia; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Skeletal muscle atrophyRhabdomyolysis
KBTBD1315q22.31100%gene with protein product613727Autosomal dominant inheritance; Difficulty climbing stairs; Difficulty running; Exercise intolerance; Gait disturbance; Limb muscle weakness; Muscle stiffness; Myopathy; Neck flexor weakness; Nemaline bodies; Slow progressionRhabdomyolysis
KLHL403p22.1100%gene with protein product615340KBTBD5Abnormality of the thorax; Dysphagia; Facial palsy; Fetal akinesia sequence; Flexion contracture; Hypokinesia; Myofibrillar myopathy; Nemaline bodies; Respiratory failureRhabdomyolysis
LAMA26q22.33100%gene with protein product156225LAMMAbnormal brainstem MRI signal intensity; Abnormal cortical gyration; Abnormality of the temporomandibular joint; Areflexia; Aspiration; Astrocytosis; Autosomal recessive inheritance; Cerebral edema; Chewing difficulties; Congenital muscular dystrophy; Congenital onset; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties in infancy; Flexion contracture; Gastroesophageal reflux; Generalized hypotonia; Highly elevated creatine phosphokinase; Hypointensity of cerebral white matter on MRI; Hypokinesia; Inability to walk; Increased connective tissue; Intellectual disability; Kyphoscoliosis; Macroglossia; Motor delay; Muscle fiber atrophy; Muscular dystrophy; Myositis; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Weak cryRhabdomyolysis
LAMP2Xq2499.42%gene with protein product309060Arrhythmia; Cardiomegaly; Cardiorespiratory arrest; Cognitive impairment; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Exercise intolerance; Exercise-induced muscle cramps; Gait disturbance; Generalized amyotrophy; Global developmental delay; Hypertrophic cardiomyopathy; Hypokinesia; Intellectual disability; Muscle flaccidity; Myocardial fibrosis; Myocardial necrosis; Pes cavus; Phenotypic variability; Proximal muscle weakness; Visual impairment; Wolff-Parkinson-White syndrome; X-linked dominant inheritanceRhabdomyolysis
LDB310q23.2100%gene with protein product605906CMD1CAutophagic vacuoles; Autosomal dominant inheritance; Cardiomyopathy; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Hyporeflexia of lower limbs; Late onset; Muscle fiber splitting; Myofibrillar myopathy; Polyneuropathy; Progressive distal muscle weakness; Progressive proximal muscle weaknessRhabdomyolysis
LDHA11p15.1100%gene with protein product150000Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Increased serum lactate; Increased serum pyruvate; Juvenile onset; Muscle cramps; Muscle stiffness; Myalgia; Myoglobinuria; Renal insufficiency; Rhabdomyolysis; RigidityRhabdomyolysis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma / congenital ichthyosis; Rhabdomyolysis
LPIN12p25.1100%gene with protein product605518Acute kidney injury; Acute rhabdomyolysis; Areflexia; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Fever; Hyperkalemia; Hyporeflexia; Muscle weakness; Myalgia; MyoglobinuriaRhabdomyolysis
MEGF105q23.2100%gene with protein product612453Areflexia; Autosomal recessive inheritance; Camptodactyly of finger; Cleft palate; Congenital onset; Decreased fetal movement; Diaphragmatic paralysis; Difficulty running; Dysphagia; Facial palsy; Failure to thrive; High palate; Hyporeflexia; Motor delay; Nasal speech; Neonatal hypotonia; Pectus excavatum; Poor head control; Respiratory distress; Respiratory failure; Restrictive ventilatory defect; Scoliosis; Talipes equinovarus; Variable expressivityRhabdomyolysis
MICU110q22.1100%gene with protein product605084CBARA1Autosomal recessive inheritance; Difficulty running; Difficulty walking; Elevated serum creatine phosphokinase; Motor delayRhabdomyolysis
MTM1Xq2899.73%gene with protein product300415Arachnodactyly; Areflexia; Atrioventricular block; Birth length greater than 97th percentile; Cavernous hemangioma; Cryptorchidism; Decreased fetal movement; Decreased liver function; Diaphragmatic eventration; EMG abnormality; External ophthalmoplegia; Facial palsy; Flexion contracture; Gait disturbance; Generalized muscle weakness; Head tremor; High palate; Hydrocephalus; Hypokinesia; Long face; Macrocephaly; Mask-like facies; Muscular hypotonia; Narrow face; Neck muscle weakness; Neonatal respiratory distress; Polyhydramnios; Ptosis; Pyloric stenosis; Respiratory failure requiring assisted ventilation; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slender toe; X-linked recessive inheritanceRhabdomyolysis
MYOT5q31.299.92%gene with protein product604103TTID, LGMD1A, LGMD1Absent Achilles reflex; Achilles tendon contracture; Adult onset; Areflexia; Autophagic vacuoles; Autosomal dominant inheritance; Broad-based gait; Cardiomyopathy; Difficulty climbing stairs; Difficulty standing; Distal amyotrophy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Heterogeneous; Hip flexor weakness; Hyporeflexia; Hyporeflexia of lower limbs; Inability to walk; Increased endomysial connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limited elbow flexion; Limited knee flexion/extension; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle stiffness; Muscular dystrophy; Myalgia; Myofibrillar myopathy; Myopathy; Nasal speech; Nasal, dysarthic speech; Neck flexor weakness; Onset; Pelvic girdle muscle weakness; Polyneuropathy; Progressive distal muscle weakness; Proximal amyotrophy; Proximal muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; Variable expressivity; Waddling gaitRhabdomyolysis
NEB2q23.387.76%gene with protein product161650NEM2Abnormality of the eye; Abnormality of the rib cage; Apnea; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Congenital contracture; Decreased fetal movement; Dysphagia; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Feeding difficulties; Frequent falls; Generalized muscle weakness; Heterogeneous; High palate; Hyperlordosis; Hyporeflexia; Infantile onset; Late-onset distal muscle weakness; Limb muscle weakness; Low-set ears; Mildly elevated creatine phosphokinase; Motor delay; Myopathic facies; Neck flexor weakness; Nemaline bodies; Neonatal hypotonia; Polyhydramnios; Proximal muscle weakness; Respiratory insufficiency due to muscle weakness; Scoliosis; Slender build; Spinal rigidity; Type 1 muscle fiber predominance; Waddling gaitRhabdomyolysis
PFKM12q13.11100%gene with protein product610681PFKXAnemia; Autosomal recessive inheritance; Cholelithiasis; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Gout; Hemolytic anemia; Hyperuricemia; Increased muscle glycogen content; Increased total bilirubin; Jaundice; Muscle weakness; Myotonia; Reduced erythrocyte 2,3-diphosphoglycerate concentration; Reticulocytosis; Skeletal muscle atrophy; Variable expressivityHemolytic Anemia ; Rhabdomyolysis
PGAM27p13100%gene with protein product612931Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myalgia; Myoglobinuria; Myopathy; Renal insufficiency; RhabdomyolysisRhabdomyolysis
PGK1Xq21.199.85%gene with protein productSome pseudogene issues311800Ataxia; Delayed speech and language development; Emotional lability; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Intellectual disability; Migraine; Phenotypic variability; Reticulocytosis; Rhabdomyolysis; Seizures; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
PGM11p31.3100%gene with protein product171900Rhabdomyolysis
PHKA1Xq13.199.86%gene with protein product311870PHKAElevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle stiffness; Exercise-induced myalgia; Exercise-induced myoglobinuria; Muscle weakness; Skeletal muscle atrophy; X-linked recessive inheritanceRhabdomyolysis
PHKB16q12.199.88%gene with protein product172490Autosomal recessive inheritance; Diarrhea; Generalized hypotonia; Hepatomegaly; Increased hepatic glycogen content; Increased muscle glycogen content; Muscle weakness; Muscular hypotonia; Short statureRhabdomyolysis
PNPLA211p15.5100%gene with protein product609059Adult onset; Autosomal recessive inheritance; Difficulty running; Difficulty walking; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Fasciculations; Generalized hypotonia; Gowers sign; Hepatic steatosis; Hepatomegaly; Increased muscle lipid content; Myalgia; Myopathy; Proximal muscle weakness; Slow progression; Variable expressivityPalmoplantar keratoderma / congenital ichthyosis; Rhabdomyolysis
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PYGM11q13.199.97%gene with protein product608455Adult onset; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise-induced muscle cramps; Exercise-induced myalgia; Muscle weakness; Myoglobinuria; Myopathy; RhabdomyolysisRhabdomyolysis
RBCK120p1399.84%gene with protein product610924C20orf18Autosomal recessive inheritance; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; Failure to thrive; Growth delay; Myalgia; Progressive; Proximal muscle weakness; Variable expressivityRhabdomyolysis
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. Testing to evaluate for variants that are associated with adverse drug reactions is available at GeneDx (PharmacoDx, J909).180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
SGCA17q21.33100%gene with protein product600119ADLAutosomal recessive inheritance; Calf muscle hypertrophy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Flexion contracture; Juvenile onset; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Progressive; Unsteady gait; Variable expressivityRhabdomyolysis
SGCB4q12100%gene with protein product600900LGMD2EAutosomal recessive inheritance; Calf muscle pseudohypertrophy; Elevated serum creatine phosphokinase; Juvenile onset; Limb-girdle muscle weakness; Muscular dystrophy; Pelvic girdle muscle atrophy; Proximal amyotrophy; Scapular winging; Shoulder girdle muscle atrophyRhabdomyolysis
SGCD5q33.2-q33.3100%gene with protein product601411Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Difficulty walking; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; Gowers sign; Muscular dystrophy; Proximal amyotrophy; Proximal muscle weakness; Reduced systolic function; Scapular winging; Ventricular hypertrophyRhabdomyolysis
SGCG13q12.12100%gene with protein product608896DMDA1, MAM, LGMD2CAutosomal recessive inheritance; Calf muscle pseudohypertrophy; Elevated serum creatine phosphokinase; Flexion contracture; Gowers sign; Hyperlordosis; Muscle fiber necrosis; Muscular dystrophy; Pneumonia; Rapidly progressive; Restrictive ventilatory defect; Right ventricular dilatation; Right ventricular hypertrophy; Scoliosis; Skeletal muscle atrophyRhabdomyolysis
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
SLC22A55q31.1100%gene with protein product603377CDSPAcute encephalopathy; Autosomal recessive inheritance; Cardiomegaly; Clumsiness; Coma; Confusion; Congestive heart failure; Decreased carnitine level in liver; Decreased plasma carnitine; Elevated hepatic transaminases; Encephalopathy; Endocardial fibroelastosis; Excessive daytime somnolence; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures with focal onset; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Impaired gluconeogenesis; Lethargy; Muscle weakness; Myopathy; Neck muscle weakness; Recurrent hypoglycemia; Reduced muscle carnitine level; VomitingRhabdomyolysis
SLC25A203p21.31100%gene with protein product613698CACTAbnormality of skeletal muscles; Atrioventricular block; Autosomal recessive inheritance; Bradycardia; Cardiomyopathy; Cardiorespiratory arrest; Coma; Decreased plasma carnitine; Dicarboxylic aciduria; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Encephalopathy; Fasting hypoglycemia; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypotension; Irritability; Lethargy; Muscle weakness; Respiratory insufficiency; Rhabdomyolysis; Seizures; Ventricular extrasystoles; Ventricular hypertrophy; Ventricular tachycardiaRhabdomyolysis
SUCLA213q14.2100%gene with protein product603921Abnormal electroretinogram; Abnormality of the basal ganglia; Abnormality of visual evoked potentials; Aminoaciduria; Ataxia; Athetosis; Autosomal recessive inheritance; Behavioral abnormality; Cachexia; Cerebral atrophy; Cerebral calcification; Decreased activity of mitochondrial respiratory chain; Decreased nerve conduction velocity; Delayed gross motor development; Dystonia; Elevated serum creatine phosphokinase; Facial diplegia; Failure to thrive; Feeding difficulties in infancy; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hyporeflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lactic acidosis; Loss of ability to walk in early childhood; Methylmalonic acidemia; Methylmalonic aciduria; Microcephaly; Ophthalmoplegia; Peripheral neuropathy; Progressive encephalopathy; Ptosis; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Short stature; Skeletal muscle atrophy; Spasticity; Strabismus; Ventriculomegaly; Visual impairmentRhabdomyolysis
SUCLG12p11.2100%gene with protein product611224Abnormality of the skin; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Growth delay; Hyperhidrosis; Hypoglycemia; Hypophosphatemia; Infantile onset; Intellectual disability, severe; Intermittent hyperpnea at rest; Lactic acidosis; Methylmalonic aciduria; Muscular hypotonia; Phenotypic variability; Poor motor coordination; Renal aminoaciduria; Respiratory failure; Seizures; Skeletal muscle atrophy; Unsteady gaitRhabdomyolysis
TANGO222q11.21100%gene with protein product616830C22orf25Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Cardiac arrest; Cerebral atrophy; Clonus; Drooling; Dysarthria; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Gait ataxia; Gait disturbance; Generalized hypotonia; Hyperactive deep tendon reflexes; Hypothyroidism; Intellectual disability; Ketonuria; Lactic acidosis; Metabolic acidosis; Muscle weakness; Myoglobinuria; Myopathic facies; Neurodegeneration; Oral-pharyngeal dysphagia; Poor coordination; Ventricular fibrillationRhabdomyolysis
TCAP17q12100%gene with protein product604488LGMD2GAreflexia of lower limbs; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Elevated serum creatine phosphokinase; Foot dorsiflexor weakness; Increased connective tissue; Increased variability in muscle fiber diameter; Muscular dystrophy; Proximal muscle weakness in lower limbs; Proximal muscle weakness in upper limbs; Proximal upper limb amyotrophy; Rimmed vacuolesRhabdomyolysis
TK216q21100%gene with protein product188250Abnormality of the basal ganglia; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Decreased activity of mitochondrial respiratory chain; Delayed gross motor development; Depletion of mitochondrial DNA in muscle tissue; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Generalized amyotrophy; Generalized hypotonia; Gowers sign; Hearing impairment; Increased serum lactate; Infantile onset; Intellectual disability, progressive; Irritability; Lactic acidosis; Limb muscle weakness; Loss of ability to walk in early childhood; Mitochondrial myopathy; Progressive; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Respiratory insufficiency due to muscle weakness; Scapular winging; Seizures; Skeletal muscle atrophy; Variable expressivityRhabdomyolysis
TNNT119q13.499.77%gene with protein product191041Abnormality of the rib cage; Autosomal recessive inheritance; Decreased hip abduction; Delayed gross motor development; Hip contracture; Infantile onset; Myopathy; Nemaline bodies; Pectus carinatum; Progressive muscle weakness; Proximal amyotrophy; Respiratory insufficiency; Rigidity; Shoulder flexion contracture; Tremor; Type 1 muscle fiber predominanceRhabdomyolysis
TNPO37q32.1100%gene with protein product610032LGMD1FAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; PruritusRhabdomyolysis
TPM29p13.3100%gene with protein product190990AMCD1Abnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bulbar palsy; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Decreased fetal movement; Difficulty walking; Dilated cardiomyopathy; Distal arthrogryposis; Downslanted palpebral fissures; Dysphagia; Elbow flexion contracture; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; Gowers sign; Heterogeneous; High palate; Hyporeflexia; Joint stiffness; Kyphoscoliosis; Limb muscle weakness; Long face; Long philtrum; Lumbar hyperlordosis; Mandibular prognathia; Metatarsus adductus; Micrognathia; Motor delay; Muscular hypotonia; Myopathic facies; Myopathy; Narrow face; Narrow mouth; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Overlapping fingers; Pectus excavatum; Prominent nasolabial fold; Protruding ear; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Round ear; Scapular winging; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Variable expressivity; Vertebral segmentation defect; Waddling gait; Weak cry; Webbed neck; Wide nasal bridgeRhabdomyolysis
TPM31q21.3100%gene with protein product191030NEM1Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Dysphagia; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Juvenile onset; Long face; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopathy; Narrow face; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Shoulder girdle muscle atrophy; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cryRhabdomyolysis
TRIM329q33.1100%gene with protein product602290LGMD2HAbnormal electroretinogram; Abnormality of the kidney; Areflexia; Autosomal recessive inheritance; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Exercise-induced myalgia; Facial palsy; Gowers sign; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hyporeflexia; Increased variability in muscle fiber diameter; Intellectual disability; Mask-like facies; Multicystic kidney dysplasia; Muscular dystrophy; Myopathy; Neck flexor weakness; Nystagmus; Obesity; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Phenotypic variability; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Proximal muscle weakness in lower limbs; Quadriceps muscle weakness; Retinopathy; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Slow progression; Tall stature; Waddling gaitBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity; Rhabdomyolysis

The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.