XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Rimmed vacuoles

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
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
DPM31q22100%gene with protein product605951Autosomal recessive inheritance; Babinski sign; Calf muscle hypertrophy; Chest pain; Decreased sialylation of O-linked protein glycosylation; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Increased variability in muscle fiber diameter; Intellectual disability, profound; Muscle weakness; Muscular dystrophy; Pelvic girdle muscle weakness; Pes planus; Reduced tendon reflexes; Rimmed vacuoles; Stroke-like episode; Type I transferrin isoform profile; Waddling gait
DPM31q22100%gene with protein product605951Autosomal recessive inheritance; Babinski sign; Calf muscle hypertrophy; Chest pain; Decreased sialylation of O-linked protein glycosylation; Dilated cardiomyopathy; Elevated creatine kinase after exercise; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Increased variability in muscle fiber diameter; Intellectual disability, profound; Muscle weakness; Muscular dystrophy; Pelvic girdle muscle weakness; Pes planus; Reduced tendon reflexes; Rimmed vacuoles; Stroke-like episode; Type I transferrin isoform profile; Waddling gait
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
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
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
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
HNRNPA112q13.13100%gene with protein product164017HNRPA1Abnormality of the abdominal musculature; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Brain atrophy; Depressivity; Distal muscle weakness; Dyspnea; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Limb-girdle muscular dystrophy; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Muscular dystrophy; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Proximal muscle weakness; Respiratory failure; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Spasticity; Ubiquitin-positive cerebral inclusion bodies; Waddling gait; Xerostomia
HNRNPA112q13.13100%gene with protein product164017HNRPA1Abnormality of the abdominal musculature; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Brain atrophy; Depressivity; Distal muscle weakness; Dyspnea; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Limb-girdle muscular dystrophy; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Muscular dystrophy; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Proximal muscle weakness; Respiratory failure; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Spasticity; Ubiquitin-positive cerebral inclusion bodies; Waddling gait; Xerostomia
HNRNPA112q13.13100%gene with protein product164017HNRPA1Abnormality of the abdominal musculature; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Brain atrophy; Depressivity; Distal muscle weakness; Dyspnea; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Limb-girdle muscular dystrophy; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Muscular dystrophy; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Proximal muscle weakness; Respiratory failure; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Spasticity; Ubiquitin-positive cerebral inclusion bodies; Waddling gait; Xerostomia
HNRNPA2B17p15.2100%gene with protein product600124HNRPA2B1Abnormality of the skeletal system; Behavioral abnormality; Brain atrophy; Centrally nucleated skeletal muscle fibers; Distal muscle weakness; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Frontotemporal dementia; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Muscle fiber atrophy; Muscular dystrophy; Myopathy; Myositis; Osteolysis; Proximal muscle weakness; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Ubiquitin-positive cerebral inclusion bodies; Waddling gait
HNRNPDL4q21.22100%gene with protein product607137HNRPDLAdult onset; Autosomal dominant inheritance; Cataract; Decreased movement range in interphalangeal joints; Elevated serum creatine phosphokinase; Flexion limitation of toes; Incomplete penetrance; Limb-girdle muscular dystrophy; Myopathy; Pelvic girdle muscle weakness; Proximal lower limb amyotrophy; Proximal upper limb amyotrophy; Rimmed vacuoles; Shoulder girdle muscle weakness; Slow progression
MATR35q31.2100%gene with protein product164015MPD2Abnormal lower motor neuron morphology; Abnormal upper motor neuron morphology; Abnormality of the nasopharynx; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Aspiration; Autosomal dominant inheritance; Bowing of the vocal cords; Bulbar palsy; Bulbar signs; Decreased nerve conduction velocity; Depressivity; Distal muscle weakness; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hoarse voice; Hyperreflexia; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Respiratory insufficiency due to muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Variable expressivity; Xerostomia
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
NEFH22q12.2100%gene with protein product162230Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Distal sensory impairment; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frequent falls; Generalized muscle weakness; Hyporeflexia; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber splitting; Myopathy; Neurodegeneration; Pain; Paralysis; Pes cavus; Progressive; Pyloric stenosis; Ragged-red muscle fibers; Respiratory failure; Rimmed vacuoles; Sensory axonal neuropathy; Skeletal muscle atrophy; Spasticity; Variable expressivity; Waddling gait; Xerostomia
PABPN114q11.299.76%gene with protein productRepeat expansion disorder detectable by XomeDxSlice.602279OPMD, PABP2Abnormality of the pharynx; Adult onset; Autosomal dominant inheritance; Distal muscle weakness; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; Facial palsy; Gait disturbance; Limb muscle weakness; Mask-like facies; Myopathy; Neck muscle weakness; Ophthalmoplegia; Progressive; Progressive ptosis; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rimmed vacuoles; Spondylolisthesis
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
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
TIA12p13.3100%gene with protein product603518Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal amyotrophy; Distal muscle weakness; Mildly elevated creatine phosphokinase; Myopathy; Rimmed vacuoles; Slow progression; Steppage gait
TTN2q31.299.92%gene with protein product188840CMD1GAdult onset; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Diaphragmatic weakness; Dilated cardiomyopathy; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Hypertrophic cardiomyopathy; Incomplete penetrance; Infantile onset; Motor delay; Muscular dystrophy; Myopathy; Neck flexor weakness; Proximal muscle weakness; Ptosis; Rimmed vacuoles; Scoliosis; Slow progression; Steppage gait; Sudden death
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia


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.


  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-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-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome