XomeDxSlice Tool

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

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Phenotypes
Cardiomyopathy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACADS12q24.31100%gene with protein product606885Abnormality of the cerebral white matter; Autosomal recessive inheritance; Cardiomyopathy; Delayed speech and language development; Episodic metabolic acidosis; Ethylmalonic aciduria; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Lethargy; Myopathy; Neonatal onset; Psychosis; Scoliosis; Seizures
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
AHCY20q11.22100%gene with protein product180960Abnormal facial shape; Abnormality of the dentition; Autosomal recessive inheritance; Cardiomyopathy; Failure to thrive; Global developmental delay; Hypermethioninemia; Intellectual disability; Motor delay
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
ALG116p13.3100%gene with protein product605907Abnormality of immune system physiology; Abnormality of the amniotic fluid; Areflexia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Death in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadism; Intrauterine growth retardation; Large fontanelles; Microcephaly; Micrognathia; Nephropathy; Nonimmune hydrops fetalis; Seizures; Splenomegaly; Thin vermilion border; Type I transferrin isoform profile
ARSB5q14.1100%gene with protein product611542Abnormal heart valve morphology; Anterior wedging of L1; Anterior wedging of L2; Autosomal recessive inheritance; Broad ribs; Cardiomyopathy; Cervical myelopathy; Coarse facial features; Constrictive median neuropathy; Depressed nasal bridge; Dermatan sulfate excretion in urine; Disproportionate short-trunk short stature; Dolichocephaly; Dysostosis multiplex; Epiphyseal dysplasia; Flared iliac wings; Genu valgum; Glaucoma; Hearing impairment; Hepatomegaly; Hip dysplasia; Hirsutism; Hydrocephalus; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic iliac wing; Inguinal hernia; Joint stiffness; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Metaphyseal irregularity; Metaphyseal widening; Opacification of the corneal stroma; Ovoid vertebral bodies; Prominent sternum; Recurrent upper respiratory tract infections; Splenomegaly; Split hand; Umbilical hernia
CDKN1C11p15.487.26%gene with protein product600856BWCR, BWSAccelerated skeletal maturation; Adrenal hypoplasia; Adrenocortical carcinoma; Adrenocortical cytomegaly; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Diastasis recti; Enlarged kidney; Epiphyseal dysplasia; Frontal bossing; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Hydronephrosis; Hypercalcemia; Hypercalciuria; Hypogonadism; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Metaphyseal dysplasia; Micromelia; Micropenis; Midface retrusion; Muscular hypotonia; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Postnatal growth retardation; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Short nose; Short stature; Vesicoureteral refluxDisorders of Sex Development
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
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
CSRP311p15.199.98%gene with protein product600824Autosomal dominant inheritance; Cardiomyopathy; Dilated cardiomyopathy; Endocardial fibroelastosis; Impaired myocardial contractility; Paroxysmal atrial fibrillation; Sudden cardiac death; Ventricular tachycardia
D2HGDH2q37.3100%gene with protein product609186Aortic regurgitation; Apnea; Autosomal recessive inheritance; Cardiomyopathy; D-2-hydroxyglutaric aciduria; Delayed CNS myelination; Dilation of lateral ventricles; Episodic vomiting; Frontal bossing; Generalized hypotonia; Global developmental delay; Glutaric aciduria; Infantile encephalopathy; Inspiratory stridor; Intellectual disability; Macrocephaly; Micrognathia; Multifocal cerebral white matter abnormalities; Muscle weakness; Prominent forehead; Seizures; Subependymal cysts
DCAF81q23.2100%gene with protein product615820WDR42AAreflexia; Autosomal dominant inheritance; Cardiomyopathy; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; EMG: chronic denervation signs; Hammertoe; Hyporeflexia; Impaired distal tactile sensation; Impaired distal vibration sensation; Onion bulb formation; Peripheral axonal neuropathy; Pes cavus; Steppage gait
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
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
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
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
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
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
FXN9q21.11100%gene with protein productXomeDxSlice can detect sequencing variants but not repeat expansions in this gene.606829FRDAAbnormal echocardiogram; Abnormal EKG; Abnormality of visual evoked potentials; Areflexia of lower limbs; Autosomal recessive inheritance; Babinski sign; Cardiomyopathy; Cervical spinal cord atrophy; Congestive heart failure; Decreased amplitude of sensory action potentials; Decreased pyruvate carboxylase activity; Decreased sensory nerve conduction velocity; Diabetes mellitus; Dysarthria; Dysmetria; Falls; Gait ataxia; Gait imbalance; Hand muscle atrophy; Hypertrophic cardiomyopathy; Impaired proprioception; Impaired vibratory sensation; Impaired visually enhanced vestibulo-ocular reflex; Intention tremor; Juvenile onset; Limb ataxia; Mitochondrial malic enzyme reduced; Muscle weakness; Nystagmus; Optic atrophy; Pes cavus; Poor fine motor coordination; Scoliosis; Sensory axonal neuropathy; Sensory neuropathy; Urinary bladder sphincter dysfunction; Visual field defect
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
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
GSN9q33.299.99%gene with protein product137350Abnormality of abdomen morphology; Adult onset; Autosomal dominant inheritance; Bulbar palsy; Cardiac amyloidosis; Cardiomyopathy; Cutis laxa; Generalized amyloid deposition; Lattice corneal dystrophy; Nephrotic syndrome; Polyneuropathy; Renal insufficiencyNephrotic Syndrome
GTPBP319p13.11100%gene with protein product608536Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Congestive heart failure; Feeding difficulties; Generalized hypotonia; Global developmental delay; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Variable expressivity
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
H1911p15.5RNA, long non-codingXomeDxSlice is not appropriate.103280Abdominal pain; Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Frontal bossing; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Macroglossia; Micrognathia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux
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
HAMP19q13.12100%gene with protein product606464Anemia; Arthropathy; Autosomal recessive inheritance; Cardiomyopathy; Cirrhosis; Congenital hepatic fibrosis; Congestive heart failure; Diabetes mellitus; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated transferrin saturation; Generalized hyperpigmentation; Hepatomegaly; Hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Lethargy; Muscle weakness; Splenomegaly
HFE6p22.2100%gene with protein product613609Abdominal pain; Abnormal glucose tolerance; Abnormality of the hypothalamus-pituitary axis; Alopecia; Amenorrhea; Arrhythmia; Arthralgia; Arthropathy; Ascites; Autosomal recessive inheritance; Azoospermia; Cardiomegaly; Cardiomyopathy; Chondrocalcinosis; Cirrhosis; Congestive heart failure; Diabetes mellitus; Elevated hepatic transaminases; Fatigue; Gynecomastia; Hepatic steatosis; Hepatocellular carcinoma; Hepatomegaly; Hyperpigmentation of the skin; Hypogonadism; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Joint dislocation; Limitation of joint mobility; Osteoporosis; Pleural effusion; Splenomegaly; Telangiectasia; Testicular atrophy
HPS110q24.2100%gene with protein product604982HPSAbdominal pain; Abnormality of the hair; Albinism; Autosomal recessive inheritance; Bruising susceptibility; Cardiomyopathy; Epistaxis; Freckles in sun-exposed areas; Freckling; Gingival bleeding; Hematochezia; Heterogeneous; Inflammation of the large intestine; Melanocytic nevus; Nystagmus; Ocular albinism; Prolonged bleeding time; Pulmonary fibrosis; Renal insufficiency; Restrictive ventilatory defect; Severe visual impairmentAlbinism
IDH215q26.1100%gene with protein product147650Abnormality of the metaphysis; Autosomal dominant inheritance; Bone pain; Cardiomyopathy; D-2-hydroxyglutaric aciduria; Exostoses; Global developmental delay; Hemangiomatosis; Joint stiffness; Micromelia; Multiple enchondromatosis; Muscular hypotonia; Osteolysis; Scoliosis; Seizures; Short stature; Subcutaneous nodule; Venous thrombosis; Visceral angiomatosis
IDUA4p16.3100%gene with protein product252800Abnormal CNS myelination; Abnormal diaphysis morphology; Abnormal heart valve morphology; Abnormal nerve conduction velocity; Abnormal pyramidal signs; Abnormal vertebral morphology; Abnormality of epiphysis morphology; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the ribs; Abnormality of the tonsils; Anteverted nares; Aortic regurgitation; Aortic valve stenosis; Autosomal recessive inheritance; Biconcave vertebral bodies; Broad face; Broad nasal tip; Calvarial hyperostosis; Camptodactyly of finger; Cardiomyopathy; Cerebral palsy; Chronic diarrhea; Coarse facial features; Constrictive median neuropathy; Corneal opacity; Coxa valga; Death in infancy; Depressed nasal bridge; Depressivity; Diaphyseal thickening; Dolichocephaly; Dysostosis multiplex; Enlarged tonsils; Everted lower lip vermilion; Feeding difficulties; Flared iliac wings; Flexion contracture; Frontal bossing; Full cheeks; Generalized hirsutism; Genu valgum; Gingival overgrowth; Glaucoma; Global developmental delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Hernia; Hirsutism; Hydrocephalus; Hypertension; Hypoplasia of the femoral head; Hypoplasia of the odontoid process; Inguinal hernia; Intellectual disability; J-shaped sella turcica; Joint stiffness; Kyphosis; Large face; Limitation of joint mobility; Macrocephaly; Macroglossia; Mandibular prognathia; Microdontia; Micrognathia; Mitral regurgitation; Mucopolysacchariduria; Muscular hypotonia; Narrow pelvis bone; Neurodegeneration; Obstructive sleep apnea; Opacification of the corneal stroma; Pes cavus; Progressive neurologic deterioration; Pulmonary arterial hypertension; Recurrent ear infections; Recurrent respiratory infections; Retinopathy; Rhinitis; Scoliosis; Sensorineural hearing impairment; Short clavicles; Short neck; Short stature; Skeletal dysplasia; Sleep disturbance; Spinal canal stenosis; Splenomegaly; Thick eyebrow; Thick vermilion border; Tracheal stenosis; Umbilical hernia; Urinary glycosaminoglycan excretion; Wide nasal bridge; Wide nose
IDUA4p16.3100%gene with protein product252800Abnormal CNS myelination; Abnormal diaphysis morphology; Abnormal heart valve morphology; Abnormal nerve conduction velocity; Abnormal pyramidal signs; Abnormal vertebral morphology; Abnormality of epiphysis morphology; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the ribs; Abnormality of the tonsils; Anteverted nares; Aortic regurgitation; Aortic valve stenosis; Autosomal recessive inheritance; Biconcave vertebral bodies; Broad face; Broad nasal tip; Calvarial hyperostosis; Camptodactyly of finger; Cardiomyopathy; Cerebral palsy; Chronic diarrhea; Coarse facial features; Constrictive median neuropathy; Corneal opacity; Coxa valga; Death in infancy; Depressed nasal bridge; Depressivity; Diaphyseal thickening; Dolichocephaly; Dysostosis multiplex; Enlarged tonsils; Everted lower lip vermilion; Feeding difficulties; Flared iliac wings; Flexion contracture; Frontal bossing; Full cheeks; Generalized hirsutism; Genu valgum; Gingival overgrowth; Glaucoma; Global developmental delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Hernia; Hirsutism; Hydrocephalus; Hypertension; Hypoplasia of the femoral head; Hypoplasia of the odontoid process; Inguinal hernia; Intellectual disability; J-shaped sella turcica; Joint stiffness; Kyphosis; Large face; Limitation of joint mobility; Macrocephaly; Macroglossia; Mandibular prognathia; Microdontia; Micrognathia; Mitral regurgitation; Mucopolysacchariduria; Muscular hypotonia; Narrow pelvis bone; Neurodegeneration; Obstructive sleep apnea; Opacification of the corneal stroma; Pes cavus; Progressive neurologic deterioration; Pulmonary arterial hypertension; Recurrent ear infections; Recurrent respiratory infections; Retinopathy; Rhinitis; Scoliosis; Sensorineural hearing impairment; Short clavicles; Short neck; Short stature; Skeletal dysplasia; Sleep disturbance; Spinal canal stenosis; Splenomegaly; Thick eyebrow; Thick vermilion border; Tracheal stenosis; Umbilical hernia; Urinary glycosaminoglycan excretion; Wide nasal bridge; Wide nose
IGF211p15.5100%gene with protein product147470C11orf43Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Decreased body weight; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Melanocytic nevus; Micrognathia; Midface retrusion; Motor delay; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Relative macrocephaly; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Short stature; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux; X-linked recessive inheritance
JPH220q13.12100%gene with protein product605267Autosomal dominant inheritance; Cardiomyopathy; Dyspnea; Left ventricular hypertrophy; Palpitations
JUP17q21.2100%gene with protein product173325CTNNGAcantholysis; Alopecia; Anonychia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cleft upper lip; Congestive heart failure; Curly hair; Dilated cardiomyopathy; Epidermal acanthosis; Fragile skin; Heterogeneous; Hyperhidrosis; Nail dystrophy; Onycholysis; Oral mucosal blisters; Palmoplantar keratoderma; Paroxysmal ventricular tachycardia; Right bundle branch block; Right ventricular cardiomyopathy; Skin erosion; Sparse and thin eyebrow; Sparse scalp hair; Sudden cardiac death; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KCNH11q32.2100%gene with protein product603305Absent nail of hallux; Adducted thumb; Aortic arch aneurysm; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad hallux; Broad thumb; Cardiomyopathy; Cataract; Coarse facial features; Delayed eruption of teeth; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Flat forehead; Generalized hypotonia; Gingival fibromatosis; Gingival overgrowth; Global developmental delay; Growth abnormality; Hepatomegaly; High palate; Hirsutism; Hyperextensibility of the finger joints; Hypertelorism; Hypoplastic thumbnail; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Long penis; Long philtrum; Mandibular prognathia; Myopathic facies; Myopia; Patent ductus arteriosus; Posteriorly rotated ears; Pseudoepiphysis of the thumb; Scoliosis; Seizures; Short distal phalanx of finger; Short distal phalanx of toe; Small nail; Spina bifida occulta; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Umbilical hernia; Wide mouth; Wide nasal bridge; Wide nose
KCNQ111p15.5-p15.100%gene with protein product607542LQT, KCNA9Abnormality of the ear; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Cardiomegaly; Cardiomyopathy; Coarse facial features; Congenital sensorineural hearing impairment; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Heterogeneous; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Palpitations; Pancreatic hyperplasia; Posterior helix pit; Prolonged QT interval; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Shortened QT interval; Sudden cardiac death; Syncope; Tachycardia; Thromboembolic stroke; Torsade de pointes; Ventricular fibrillation; Vesicoureteral reflux
KCNQ1OT111p15.5RNA, long non-codingXomeDxSlice is not appropriate.604115LIT1Abnormality of the dentition; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Facial asymmetry; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Intellectual disability, mild; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Scoliosis; Vesicoureteral reflux
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
LTBP419q13.1-q13.100%gene with protein product604710Autosomal recessive inheritance; Bladder diverticulum; Bronchomalacia; Calf muscle hypertrophy; Cardiomyopathy; Cognitive impairment; Cutis laxa; Delayed speech and language development; Elevated serum creatine phosphokinase; Emphysema; Flexion contracture; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hydronephrosis; Hypertelorism; Inguinal hernia; Joint laxity; Laryngomalacia; Long philtrum; Malar flattening; Micrognathia; Midface retrusion; Motor delay; Patent foramen ovale; Periorbital edema; Progressive muscle weakness; Proximal muscle weakness; Pulmonary artery stenosis; Pulmonary hypoplasia; Pyloric stenosis; Rectal prolapse; Respiratory insufficiency; Retrognathia; Sandal gap; Scoliosis; Skeletal muscle atrophy; Sloping forehead; Specific learning disability; Tracheomalacia; Umbilical hernia; Waddling gait; Wide nasal bridge
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
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
NEU16p21.33100%gene with protein product608272NEUAbnormal form of the vertebral bodies; Aminoaciduria; Ascites; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cardiomegaly; Cardiomyopathy; Cataract; Cherry red spot of the macula; Coarse facial features; Corneal opacity; Decreased nerve conduction velocity; Delayed skeletal maturation; Dysmetria; Dysostosis multiplex; EEG abnormality; Epiphyseal stippling; Facial edema; Frontal bossing; Gait disturbance; Generalized hypotonia; Hepatomegaly; Hernia; Hydrops fetalis; Hyperkeratosis; Hyperreflexia; Increased urinary O-linked sialopeptides; Inguinal hernia; Intellectual disability; Muscle weakness; Muscular hypotonia; Myoclonus; Neurological speech impairment; Nystagmus; Pectus carinatum; Progressive visual loss; Proteinuria; Retinopathy; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Short thorax; Skeletal dysplasia; Skeletal muscle atrophy; Slurred speech; Splenomegaly; Thick lower lip vermilion; Tremor; Urinary excretion of sialylated oligosaccharides; Vacuolated lymphocytes; Vascular skin abnormality; Visual impairment; Wide nasal bridge
NEXN1p31.199.97%gene with protein product613121Autosomal dominant inheritance; Cardiomyopathy; Dilated cardiomyopathy; Left ventricular hypertrophy
NPPA1p36.22100%gene with protein product108780ANP, PNDAtrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Cardiomyopathy
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PHYH10p1399.97%gene with protein product602026Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cataract; Congestive heart failure; Developmental regression; Dry skin; Elevated levels of phytanic acid; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability, severe; Limb muscle weakness; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Retinal degeneration; Retinopathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Splenomegaly; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PHYH10p1399.97%gene with protein product602026Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cataract; Congestive heart failure; Developmental regression; Dry skin; Elevated levels of phytanic acid; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability, severe; Limb muscle weakness; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Retinal degeneration; Retinopathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Splenomegaly; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PLN6q22.31100%gene with protein product172405PLBAtrial fibrillation; Autosomal dominant inheritance; Cardiomyopathy; Dilated cardiomyopathy; Left ventricular hypertrophy; Reduced systolic function; Ventricular arrhythmia
PMM216p13.2100%gene with protein product601785CDG1Abnormal subcutaneous fat tissue distribution; Abnormality of the amniotic fluid; Ataxia; Autosomal recessive inheritance; Cardiomyopathy; Depressed nasal bridge; Diarrhea; Elevated hepatic transaminases; Esotropia; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hypoalbuminemia; Hypocholesterolemia; Hyporeflexia; Hypothyroidism; IgA deficiency; IgG deficiency; Inverted nipples; Kyphosis; Macrotia; Microcephaly; Muscle weakness; Nephrotic syndrome; Nonimmune hydrops fetalis; Nystagmus; Olivopontocerebellar hypoplasia; Osteopenia; Pericardial effusion; Polyneuropathy; Premature ovarian insufficiency; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Proteinuria; Proximal tubulopathy; Reduced antithrombin III activity; Reduced factor XI activity; Renal cyst; Rod-cone dystrophy; Seizures; Stroke-like episode; Thin upper lip vermilion; Thrombocytosis; Type I transferrin isoform profile; Vomiting
PRKAG27q36.197.31%gene with protein product602743Ascites; Asymmetric septal hypertrophy; Atrial fibrillation; Atrioventricular block; Autosomal dominant inheritance; Autosomal recessive inheritance; Biventricular hypertrophy; Cardiomegaly; Cardiomyopathy; Congestive heart failure; Cyanosis; Heterogeneous; Hypertrophic cardiomyopathy; Hypotension; Left bundle branch block; Neonatal hypoglycemia; Palpitations; Paroxysmal atrial fibrillation; Paroxysmal supraventricular tachycardia; Prolonged QRS complex; Pulmonary edema; Shortened PR interval; Sinus bradycardia; Stroke; Sudden cardiac death; Ventricular preexcitation; Ventricular preexcitation with multiple accessory pathways; Wolff-Parkinson-White syndrome
RAB3GAP21q4198.48%gene with protein product609275Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Asymmetry of the ears; Autosomal recessive inheritance; Brachycephaly; Broad fingertip; Broad nasal tip; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Congestive heart failure; Cortical visual impairment; Cryptorchidism; Delayed puberty; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Flexion contracture; Furrowed tongue; Generalized hirsutism; Global brain atrophy; Global developmental delay; High palate; Hyperlordosis; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Malar flattening; Metatarsus adductus; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Overlapping toe; Pachygyria; Pectus carinatum; Pectus excavatum; Polymicrogyria; Posteriorly rotated ears; Postnatal growth retardation; Postnatal microcephaly; Prematurely aged appearance; Prominent antitragus; Prominent nasal bridge; Prominent nipples; Recurrent respiratory infections; Scoliosis; Scrotal hypoplasia; Severe global developmental delay; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short philtrum; Short stature; Short toe; Slender ulna; Spasticity; Talipes equinovarus; Talipes valgus; Tracheomalacia; Ulnar deviation of finger; Undetectable visual evoked potentials; Wide nasal bridge
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate. This gene is available on our menu: https://www.genedx.com/test-catalog/available-tests/rmrp-gene-sequencing-1/157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
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
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
SLC40A12q32.299.99%gene with protein product604653SLC11A3, FPN1Abdominal pain; Arrhythmia; Arthralgia; Autosomal dominant inheritance; Cardiomyopathy; Cataract; Fatigue; Generalized hyperpigmentation; Glucose intolerance; Hepatic steatosis; Impotence; Increased serum ferritin; Joint dislocation; Joint swelling; Limitation of joint mobility; Osteoarthritis
SYNE214q23.299.95%gene with protein product608442Arrhythmia; Autosomal dominant inheritance; Cardiomyopathy; Childhood onset; Elevated serum creatine phosphokinase; Muscular dystrophy; Phenotypic variability; Proximal amyotrophy; Proximal muscle weakness; Respiratory insufficiency
TFR27q22.1100%gene with protein product604720Amenorrhea; Anemia; Arthritis; Autosomal recessive inheritance; Cardiomyopathy; Cirrhosis; Elevated hepatic transaminases; Fatigue; Hyperpigmentation of the skin; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Lymphopenia; Neutropenia
TNNI319q13.4100%gene with protein product191044CMD2AAutosomal dominant inheritance; Autosomal recessive inheritance; Cardiomyopathy; Congestive heart failure; Dilated cardiomyopathy; Heterogeneous; Juvenile onset; Restrictive cardiomyopathy; Ventricular hypertrophy; Ventriculomegaly; Young adult onset
TNNT21q32.199.88%gene with protein product191045CMH2, CMD1DAutosomal dominant inheritance; Cardiomyopathy; Congestive heart failure; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Sudden death
TTR18q12.1100%gene with protein product176300PALB, CTS1Abnormal test result; Adult onset; Amyloid deposition in the vitreous humor; Amyloidosis; Arrhythmia; Ataxia; Atrioventricular block; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Constipation; Constrictive median neuropathy; Dementia; Diarrhea; Digital flexor tenosynovitis; Dysarthria; Dysautonomia; Headache; Hearing impairment; Hemiparesis; Hyporeflexia; Impotence; Increased CSF protein; Muscle weakness; Nephropathy; Nystagmus; Orthostatic hypotension due to autonomic dysfunction; Paraplegia; Peripheral axonal neuropathy; Peripheral neuropathy; Phenotypic variability; Polyneuropathy; Progressive; Seizures; Spasticity; Stroke-like episode; Tremor; Urinary incontinence; Visual impairment; Vitamin B6 deficiency; Vitreous floaters; Weight loss
TTR18q12.1100%gene with protein product176300PALB, CTS1Abnormal test result; Adult onset; Amyloid deposition in the vitreous humor; Amyloidosis; Arrhythmia; Ataxia; Atrioventricular block; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Constipation; Constrictive median neuropathy; Dementia; Diarrhea; Digital flexor tenosynovitis; Dysarthria; Dysautonomia; Headache; Hearing impairment; Hemiparesis; Hyporeflexia; Impotence; Increased CSF protein; Muscle weakness; Nephropathy; Nystagmus; Orthostatic hypotension due to autonomic dysfunction; Paraplegia; Peripheral axonal neuropathy; Peripheral neuropathy; Phenotypic variability; Polyneuropathy; Progressive; Seizures; Spasticity; Stroke-like episode; Tremor; Urinary incontinence; Visual impairment; Vitamin B6 deficiency; Vitreous floaters; Weight loss
VAC1416q22.1-q22.100%gene with protein product604632TAX1BP2Abnormal pelvis bone morphology; Abnormality of dental structure; Abnormality of the occipital bone; Abnormality of the parietal bone; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Anteverted nares; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Arrhinencephaly; Autosomal recessive inheritance; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Craniofacial dystonia; Decreased skull ossification; Delayed speech and language development; Developmental regression; Dolichocephaly; Drooling; Dysphagia; Generalized neonatal hypotonia; Global developmental delay; High forehead; High, narrow palate; Hyperreflexia; Hypertelorism; Hypertonia; Hypoplasia of the frontal lobes; Hypospadias; Loss of ability to walk; Low-set ears; Metatarsus adductus; Micrognathia; Micropenis; Neuronal loss in central nervous system; Pachygyria; Postnatal growth retardation; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Redundant neck skin; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Short chin; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Syndactyly; Tapered finger; Thin vermilion border; Unsteady gait; Upslanted palpebral fissure; Ventricular septal defect; Wide cranial sutures
WFS14p16.1100%gene with protein product606201DFNA6, DFNA14, DFNA38Abnormality of mesentery morphology; Abnormality of the pinna; Abnormality of the upper urinary tract; Anxiety; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Central diabetes insipidus; Cerebral atrophy; Congenital cataract; Congenital sensorineural hearing impairment; Delayed puberty; Dementia; Depressivity; Diabetes insipidus; Diabetes mellitus; Dysarthria; Dysphagia; Dysuria; Feeding difficulties in infancy; Gastrointestinal dysmotility; Glaucoma; Glucose intolerance; Growth delay; Hearing impairment; Hydronephrosis; Hydroureter; Hypothyroidism; Intellectual disability; Limited mobility of proximal interphalangeal joint; Low-frequency sensorineural hearing impairment; Male hypogonadism; Megaloblastic anemia; Nephropathy; Neurogenic bladder; Nuclear cataract; Nystagmus; Optic atrophy; Peripheral axonal neuropathy; Pigmentary retinopathy; Polydipsia; Primary gonadal insufficiency; Progressive cerebellar ataxia; Progressive sensorineural hearing impairment; Psychosis; Ptosis; Recurrent urinary tract infections; Seizures; Sensorineural hearing impairment; Sideroblastic anemia; Stroke-like episode; Testicular atrophy; Thrombocytopenia; TremorDisorders of Sex Development


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