XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

What do you want to do?

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


 
Phenotypes
Cardiomegaly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC912p12.1100%gene with protein product601439Abnormality of the hand; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad first metatarsal; Broad hallux; Broad hallux phalanx; Broad ribs; Bulbous nose; Cardiomegaly; Coarse facial features; Congenital hypertrophy of left ventricle; Congenital, generalized hypertrichosis; Coxa valga; Craniofacial hyperostosis; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Epicanthus; Erlenmeyer flask deformity of the femurs; Everted lower lip vermilion; Furrowed tongue; Generalized hirsutism; Gingival overgrowth; Highly arched eyebrow; Hypertelorism; Hypoplastic ischiopubic rami; Intellectual disability, mild; Joint hyperflexibility; Large for gestational age; Large hands; Large sella turcica; Long eyelashes; Long nose; Long philtrum; Low anterior hairline; Low posterior hairline; Lymphedema; Macrocephaly; Macroglossia; Metaphyseal widening; Micrognathia; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Palpebral edema; Paroxysmal atrial fibrillation; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Prominent forehead; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Sloping forehead; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick upper lip vermilion; Thick vermilion border; Thickened skin; Umbilical hernia; Wide mouth; Wide nasal bridge; Widened posterior fossa
ABCC912p12.1100%gene with protein product601439Abnormality of the hand; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad first metatarsal; Broad hallux; Broad hallux phalanx; Broad ribs; Bulbous nose; Cardiomegaly; Coarse facial features; Congenital hypertrophy of left ventricle; Congenital, generalized hypertrichosis; Coxa valga; Craniofacial hyperostosis; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Epicanthus; Erlenmeyer flask deformity of the femurs; Everted lower lip vermilion; Furrowed tongue; Generalized hirsutism; Gingival overgrowth; Highly arched eyebrow; Hypertelorism; Hypoplastic ischiopubic rami; Intellectual disability, mild; Joint hyperflexibility; Large for gestational age; Large hands; Large sella turcica; Long eyelashes; Long nose; Long philtrum; Low anterior hairline; Low posterior hairline; Lymphedema; Macrocephaly; Macroglossia; Metaphyseal widening; Micrognathia; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Palpebral edema; Paroxysmal atrial fibrillation; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Prominent forehead; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Sloping forehead; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick upper lip vermilion; Thick vermilion border; Thickened skin; Umbilical hernia; Wide mouth; Wide nasal bridge; Widened posterior fossa
ACTA210q23.31100%gene with protein product102620Abnormality iris morphology; Abnormality of the cerebral vasculature; Aortic aneurysm; Aortic regurgitation; Aortic root aneurysm; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cryptorchidism; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Dilatation of the cerebral artery; Exertional dyspnea; Hyperperistalsis; Hypertension; Intellectual disability; Intestinal malrotation; Left ventricular failure; Moyamoya phenomenon; Mydriasis; Paroxysmal dyspnea; Patent ductus arteriosus; Periventricular white matter hyperdensities; Pulmonary arterial hypertension; Retinal infarction; Seizures; Tachypnea; Telangiectasia; Thoracic aortic aneurysm; Ventriculomegaly
B3GAT311q12.3100%gene with protein product606374Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic root aneurysm; Autosomal recessive inheritance; Bicuspid aortic valve; Bilateral elbow dislocations; Brachycephaly; Broad distal phalanges of all fingers; Cardiomegaly; Cleft palate; Congenital glaucoma; Cutis laxa; Depressed nasal bridge; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged metaphyses; Esotropia; Frontal bossing; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Joint laxity; Knee dislocation; Left ventricular hypertrophy; Low posterior hairline; Low-set ears; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral valve prolapse; Multiple joint dislocation; Narrow chest; Narrow mouth; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Radioulnar synostosis; Scoliosis; Short neck; Small face; Spatulate thumbs; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow
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
CHST310q22.1100%gene with protein product603799Abnormal form of the vertebral bodies; Abnormality of cardiovascular system morphology; Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arthralgia; Arthropathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Bicuspid aortic valve; Bilateral elbow dislocations; Bilateral single transverse palmar creases; Brachycephaly; Brachydactyly; Broad distal phalanges of all fingers; Broad forehead; Camptodactyly of finger; Cardiomegaly; Cleft palate; Congenital glaucoma; Coronal cleft vertebrae; Cubitus valgus; Cutis laxa; Decreased hip abduction; Delayed eruption of teeth; Delayed gross motor development; Delayed skeletal maturation; Depressed nasal bridge; Deviation of the 5th finger; Disproportionate short-trunk short stature; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Enlarged joints; Enlarged metaphyses; Esotropia; Fixed elbow flexion; Flattened epiphysis; Flexion contracture; Frontal bossing; Generalized bone demineralization; Genu valgum; Hearing impairment; High palate; Highly arched eyebrow; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the ulna; Intervertebral space narrowing; Irregular epiphyses; Irregular vertebral endplates; Joint laxity; Knee dislocation; Kyphoscoliosis; Left ventricular hypertrophy; Limited hip extension; Long philtrum; Low posterior hairline; Low-set ears; Lumbar hyperlordosis; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Multiple carpal ossification centers; Multiple joint dislocation; Narrow chest; Narrow mouth; Narrow vertebral interpedicular distance; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Pulmonary arterial hypertension; Pulmonic stenosis; Radioulnar synostosis; Rhizomelia; Scoliosis; Shield chest; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short neck; Short phalanx of finger; Shoulder dislocation; Small epiphyses; Small face; Sparse and thin eyebrow; Sparse eyebrow; Spatulate thumbs; Spondyloepiphyseal dysplasia; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow; Tibial bowing; Tricuspid regurgitation; Tricuspid stenosis; Ulnar bowing; Ventricular hypertrophy; Ventricular septal defect; Waddling gait; Wide intermamillary distance; Widely spaced teeth
CLIC2Xq2899.94%gene with protein product300138Absent speech; Cardiomegaly; Congestive heart failure; Contractures of the large joints; Global developmental delay; Intellectual disability, profound; Macroorchidism; Macrotia; Seizures; X-linked recessive inheritance
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
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
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
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
FOXE31p3399.53%gene with protein product601094FKHL12Abnormality iris morphology; Abnormality of vision; Aniridia; Anterior segment of eye aplasia; Anterior synechiae of the anterior chamber; Aortic regurgitation; Aphakia; Ascending aortic dissection; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Cataract; Central opacification of the cornea; Chest pain; Congenital glaucoma; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; Hypertension; Left ventricular failure; Microcornea; Microphthalmia; Nystagmus; Opacification of the corneal stroma; Paroxysmal dyspnea; Peters anomaly; Posterior synechiae of the anterior chamber; Retinal dysplasia; Sclerocornea; Subcapsular cataract; Thinning of Descemet membrane
FUCA11p36.11100%gene with protein product612280Abnormality of the abdominal wall; Abnormality of the gallbladder; Absent/hypoplastic coccyx; Absent/hypoplastic paranasal sinuses; Angiokeratoma; Anhidrosis; Anterior beaking of lumbar vertebrae; Anterior beaking of thoracic vertebrae; Autosomal recessive inheritance; Barrel-shaped chest; Brachycephaly; Cardiomegaly; Cerebral atrophy; Cervical platyspondyly; Coarse facial features; Corneal opacity; Coxa valga; Decreased muscle mass; Dry skin; Dysostosis multiplex; Elevated sweat chloride; Failure to thrive; Flexion contracture; Frontal bossing; Generalized hyperkeratosis; Global developmental delay; Hearing impairment; Hepatomegaly; Hernia; Hyperhidrosis; Hypertelorism; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Kyphosis; Lipoatrophy; Lumbar hyperlordosis; Macroglossia; Mucopolysacchariduria; Muscular hypotonia; Oligosacchariduria; Polyneuropathy; Prominent forehead; Recurrent respiratory infections; Scoliosis; Seizures; Shield chest; Short stature; Spastic tetraplegia; Splenomegaly; Thick eyebrow; Thick lower lip vermilion; Tortuosity of conjunctival vessels; Vacuolated lymphocytes; Vascular skin abnormality; Wide nose
GAA17q25.3100%gene with protein product606800Abnormal CNS myelination; Areflexia; Autosomal recessive inheritance; Cardiomegaly; Diaphragmatic paralysis; Dilatation of the cerebral artery; Dyspnea; Elevated serum creatine phosphokinase; Fever; Firm muscles; Generalized hypotonia; Hearing impairment; Hepatomegaly; Macroglossia; Proximal muscle weakness; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Shortened PR interval; Splenomegaly; Wolff-Parkinson-White syndromeRhabdomyolysis
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GNPTAB12q23.299.95%gene with protein product607840GNPTAAbnormality of nervous system morphology; Abnormality of the rib cage; Abnormality of the thorax; Anteverted nares; Aortic regurgitation; Atlantoaxial dislocation; Autosomal recessive inheritance; Beaking of vertebral bodies T12-L3; Broad ribs; Bullet-shaped phalanges of the hand; Cardiomegaly; Carpal bone hypoplasia; Cavernous hemangioma; Coarse facial features; Congestive heart failure; Constrictive median neuropathy; Corneal erosion; Craniosynostosis; Death in childhood; Deficiency of N-acetylglucosamine-1-phosphotransferase; Depressed nasal bridge; Diastasis recti; Dysostosis multiplex; Epicanthus; Failure to thrive; Flared iliac wings; Flat acetabular roof; Generalized hirsutism; Heart murmur; Hepatomegaly; Hernia; High forehead; Hip dislocation; Hoarse voice; Hyperopic astigmatism; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic scapulae; Increased serum beta-hexosaminidase; Increased serum iduronate sulfatase activity; Inguinal hernia; Intellectual disability; Irregular carpal bones; J-shaped sella turcica; Lack of skin elasticity; Large sella turcica; Long philtrum; Lower thoracic interpediculate narrowness; Macroglossia; Mandibular prognathia; Megalocornea; Metaphyseal widening; Mucopolysacchariduria; Myelopathy; Narrow forehead; Neonatal hypotonia; Opacification of the corneal stroma; Osteopenia; Ovoid vertebral bodies; Palpebral edema; Pathologic fracture; Progressive alveolar ridge hypertropy; Protuberant abdomen; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Retinal degeneration; Scoliosis; Severe global developmental delay; Severe postnatal growth retardation; Shallow acetabular fossae; Short long bone; Short ribs; Short stature; Soft tissue swelling of interphalangeal joints; Sparse and thin eyebrow; Specific learning disability; Splenomegaly; Split hand; Talipes equinovarus; Thickened calvaria; Thickened skin; Thin skin; Thoracolumbar kyphoscoliosis; Umbilical hernia; Varus deformity of humeral neck; Wide intermamillary distance
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
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
HEXB5q13.399.12%gene with protein product606873Abnormality of glycosphingolipid metabolism; Ataxia; Blindness; Cardiomegaly; Cherry red spot of the macula; Chronic diarrhea; Coarse facial features; Dysarthria; Episodic abdominal pain; Fasciculations; Hepatosplenomegaly; Hyperhidrosis; Hyperreflexia; Hypohidrosis; Impaired thermal sensitivity; Impotence; Macrocephaly; Macroglossia; Muscle weakness; Orthostatic hypotension; Progressive psychomotor deterioration; Skeletal muscle atrophy; Urinary incontinence
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
HYMAI6q24.2RNA, long non-codingXomeDxSlice is not appropriate.606546Abnormality of earlobe; Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Cardiomegaly; Contractures of the joints of the lower limbs; Cryptorchidism; Dehydration; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Gingival overgrowth; Global developmental delay; Glycosuria; Hepatomegaly; High palate; Hyperglycemia; Hypoplastic fingernail; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Labial hypertrophy; Macroglossia; Micrognathia; Motor delay; Neonatal insulin-dependent diabetes mellitus; Neonatal respiratory distress; Oligohydramnios; Postnatal growth retardation; Precocious puberty; Prominent metopic ridge; Prominent nose; Prominent occiput; Retrognathia; Severe failure to thrive; Shallow orbits; Small anterior fontanelle; Transient neonatal diabetes mellitus; Umbilical hernia; Ventricular septal defect; Weight loss
IFIH12q24.299.95%gene with protein product606951Absent speech; Aortic arch calcification; Aortic valve calcification; Aortic valve stenosis; Arrhinencephaly; Atopic dermatitis; Autosomal dominant inheritance; Basal ganglia calcification; Broad forehead; Cardiomegaly; Carious teeth; Cerebral atrophy; Congestive heart failure; Coxa valga; Cutaneous photosensitivity; Decreased body weight; Dystonia; Expanded metacarpals with widened medullary cavities; Expanded metatarsals with widened medullary cavities; Expanded phalanges with widened medullary cavities; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Genu valgum; Glaucoma; Global developmental delay; Hemiplegia/hemiparesis; High anterior hairline; Hip dislocation; Hip subluxation; Hypoplasia of the maxilla; Hypoplasia of the tooth germ; Hypoplastic distal radial epiphyses; Incomplete penetrance; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Irritability; Mitral valve calcification; Muscle weakness; Muscular hypotonia of the trunk; Myopia; Onycholysis; Osteolytic defects of the phalanges of the hand; Osteoporosis; Pes cavus; Porencephalic cyst; Recurrent respiratory infections; Shallow acetabular fossae; Short stature; Smooth philtrum; Spastic tetraparesis; Spasticity; Subvalvular aortic stenosis; Talipes equinovarus; Tendon rupture; Unerupted tooth; Variable expressivity; Vasculitis; Waddling gaitAutoimmune Disorders
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
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
KCNJ812p12.1100%gene with protein product600935Abnormality of the metaphysis; Anteverted nares; Broad hallux phalanx; Broad ribs; Cardiomegaly; Coarse facial features; Coxa valga; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Epicanthus; Generalized hirsutism; Intellectual disability, mild; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Macrocephaly; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Patent ductus arteriosus; Platyspondyly; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Thick eyebrow; Thick vermilion border; Umbilical hernia; Wide mouth; Wide nasal bridge
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
LAMP2Xq2499.42%gene with protein product309060Arrhythmia; Cardiomegaly; Cardiorespiratory arrest; Cognitive impairment; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Exercise intolerance; Exercise-induced muscle cramps; Gait disturbance; Generalized amyotrophy; Global developmental delay; Hypertrophic cardiomyopathy; Hypokinesia; Intellectual disability; Muscle flaccidity; Myocardial fibrosis; Myocardial necrosis; Pes cavus; Phenotypic variability; Proximal muscle weakness; Visual impairment; Wolff-Parkinson-White syndrome; X-linked dominant inheritanceRhabdomyolysis
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LOX5q23.1100%gene with protein product153455Abnormality iris morphology; Aortic regurgitation; Ascending aortic dissection; Autosomal dominant inheritance; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; Hypertension; Left ventricular failure; Paroxysmal dyspneaPalmoplantar keratoderma plus congenital ichthyosis
MFAP512p13.3199.93%gene with protein product601103Abnormality iris morphology; Aortic regurgitation; Ascending aortic dissection; Autosomal dominant inheritance; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; Hypertension; Left ventricular failure; Paroxysmal dyspnea; Pectus carinatum; Pectus excavatum; Thoracic aortic aneurysm
MYH1116p13.11100%gene with protein product160745Abdominal distention; Abnormal iris pigmentation; Abnormality iris morphology; Aortic aneurysm; Aortic regurgitation; Aortic root aneurysm; Ascending aortic dissection; Autosomal dominant inheritance; Bicuspid aortic valve; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis; Cystic medial necrosis of the aorta; Descending aortic dissection; Descending thoracic aorta aneurysm; Exertional dyspnea; Hydroureter; Hypertension; Hypoperistalsis; Intestinal malrotation; Left ventricular failure; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Paroxysmal dyspnea; Patent ductus arteriosus; Polyhydramnios
MYH1116p13.11100%gene with protein product160745Abdominal distention; Abnormal iris pigmentation; Abnormality iris morphology; Aortic aneurysm; Aortic regurgitation; Aortic root aneurysm; Ascending aortic dissection; Autosomal dominant inheritance; Bicuspid aortic valve; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis; Cystic medial necrosis of the aorta; Descending aortic dissection; Descending thoracic aorta aneurysm; Exertional dyspnea; Hydroureter; Hypertension; Hypoperistalsis; Intestinal malrotation; Left ventricular failure; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Paroxysmal dyspnea; Patent ductus arteriosus; Polyhydramnios
MYLK3q21.1100%gene with protein product600922Abdominal distention; Abnormality iris morphology; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Ascending aortic dissection; Autosomal dominant inheritance; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; Hydroureter; Hypertension; Hypoperistalsis; Intestinal malrotation; Left ventricular failure; Megacystis; Microcolon; Multicystic kidney dysplasia; Nausea and vomiting; Paroxysmal dyspnea; Polyhydramnios
NAGA22q13.2100%gene with protein product104170Abnormal pyramidal signs; Abnormality of brainstem morphology; Abnormality of extrapyramidal motor function; Abnormality of the eye; Adult onset; Aminoaciduria; Angiokeratoma corporis diffusum; Autism; Autosomal recessive inheritance; Axonal degeneration; Cardiomegaly; Cataract; Cerebral atrophy; Coarse facial features; Cognitive impairment; Cortical visual impairment; Depressed nasal bridge; Developmental regression; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dry skin; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hepatomegaly; Hyperkeratosis; Hyperreflexia; Hypertrophic cardiomyopathy; Increased urinary O-linked sialopeptides; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, severe; Lip telangiectasia; Lymphedema; Muscle weakness; Muscular hypotonia; Myoclonus; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Osteopenia; Papule; Peripheral axonal neuropathy; Peripheral neuropathy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Subcutaneous nodule; Telangiectasia of the oral mucosa; Telangiectasia of the skin; Thick lower lip vermilion; Thick vermilion border; Tinnitus; Vertigo; White mater abnormalities in the posterior periventricular region
NAGLU17q21.2100%gene with protein product609701Aggressive behavior; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Coarse facial features; Coarse hair; Dense calvaria; Diarrhea; Distal sensory impairment; Dysostosis multiplex; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Hyporeflexia; Intellectual disability; Joint stiffness; Juvenile onset; Ovoid thoracolumbar vertebrae; Progressive; Progressive neurologic deterioration; Recurrent upper respiratory tract infections; Seizures; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs
NEK914q24.3100%gene with protein product609798Adducted thumb; Arthrogryposis multiplex congenita; Asthma; Atopic dermatitis; Atrial septal defect; Autosomal recessive inheritance; Camptodactyly; Cardiomegaly; Comedo; Fetal akinesia sequence; Full cheeks; Hamartoma; High palate; Hydrops fetalis; Hypoplasia of the thymus; Intrauterine growth retardation; Long philtrum; Micrognathia; Narrow palate; Oligohydramnios; Overlapping fingers; Overlapping toe; Overriding aorta; Pulmonary hypoplasia; Pulmonic stenosis; Pyloric stenosis; Short neck; Somatic mutation; Stiff neck; Talipes equinovarus; Thoracic scoliosis; Ventricular septal defect
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
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
PAM1616p13.399.99%gene with protein product614336Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Cardiomegaly; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Frontal bossing; Global developmental delay; Hypoplastic ischia; Iliac crest serration; Large fontanelles; Low-set ears; Metaphyseal cupping; Micromelia; Microtia; Muscular hypotonia of the trunk; Narrow chest; Prominent forehead; Pulmonary arterial hypertension; Round face; Severe platyspondyly; Short long bone; Short neck; Short nose; Short ribs; Short stature; Small for gestational age; Spondylometaphyseal dysplasia; Squared iliac bones; Tachypnea; Wide nose; Wormian bones
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
PLAGL16q24.2100%gene with protein product603044Abnormality of earlobe; Abnormality of the pancreatic islet cells; Arthrogryposis multiplex congenita; Bilateral ptosis; Cardiomegaly; Contractures of the joints of the lower limbs; Cryptorchidism; Dehydration; Downturned corners of mouth; Failure to thrive; Generalized myoclonic seizures; Gingival overgrowth; Global developmental delay; Glycosuria; Hepatomegaly; High palate; Hyperglycemia; Hypoplastic fingernail; Hypovolemia; Intellectual disability; Intrauterine growth retardation; Ketonuria; Labial hypertrophy; Macroglossia; Micrognathia; Motor delay; Neonatal insulin-dependent diabetes mellitus; Neonatal respiratory distress; Oligohydramnios; Postnatal growth retardation; Precocious puberty; Prominent metopic ridge; Prominent nose; Prominent occiput; Retrognathia; Shallow orbits; Small anterior fontanelle; Transient neonatal diabetes mellitus; Umbilical hernia; Ventricular septal defect; Weight loss
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
PRKG110q11.23-q2199.8%gene with protein product176894PRKGR1B, PRKG1BAbnormality iris morphology; Aortic regurgitation; Ascending aortic dissection; Autosomal dominant inheritance; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; Hypertension; Left ventricular failure; Paroxysmal dyspnea; Thoracic aortic aneurysm
PSMB86p21.3299.84%gene with protein product177046LMP7Abnormality of the Leydig cells; Abnormally large globe; Adipose tissue loss; Arthralgia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Basal ganglia calcification; Bone pain; Camptodactyly of finger; Cardiomegaly; Clubbing of fingers; Clubbing of toes; Congestive heart failure; Conjunctivitis; Elbow flexion contracture; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Episcleritis; Episodic fever; Erythema; Erythema nodosum; Failure to thrive; Finger swelling; Flexion contracture of toe; Hepatomegaly; Hyperhidrosis; Hyperostosis; Hyperpigmentation of the skin; Hypertriglyceridemia; Increased antibody level in blood; Intellectual disability, mild; Joint stiffness; Lipoatrophy; Lipodystrophy; Long fingers; Lymphadenopathy; Macroglossia; Macrotia; Microcytic anemia; Muscle weakness; Osteopenia; Panniculitis; Prominent nose; Skeletal muscle atrophy; Skin rash; Splenomegaly; Subcutaneous nodule; Thick lower lip vermilion
SLC17A56q1399.99%gene with protein product604322SIASDAbnormality of metabolism/homeostasis; Abnormality of the foot; Abnormality of the thorax; Anteverted nares; Ascites; Ataxia; Athetosis; Autosomal recessive inheritance; Cardiomegaly; Cerebral atrophy; Coarse facial features; Congestive heart failure; Conjugated hyperbilirubinemia; Death in childhood; Delayed speech and language development; Dysarthria; Epicanthus; Exotropia; Failure to thrive; Fair hair; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Growth delay; Hepatomegaly; High palate; Hydrocephalus; Hydrops fetalis; Hypopigmentation of the skin; Inability to walk; Intellectual disability; J-shaped sella turcica; Metaphyseal irregularity; Nephrotic syndrome; Nystagmus; Osteopenia; Premature birth; Ptosis; Seizures; Spasticity; Splenomegaly; Thickened calvaria; Vacuolated lymphocytes
SLC22A55q31.1100%gene with protein product603377CDSPAcute encephalopathy; Autosomal recessive inheritance; Cardiomegaly; Clumsiness; Coma; Confusion; Congestive heart failure; Decreased carnitine level in liver; Decreased plasma carnitine; Elevated hepatic transaminases; Encephalopathy; Endocardial fibroelastosis; Excessive daytime somnolence; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures with focal onset; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Impaired gluconeogenesis; Lethargy; Muscle weakness; Myopathy; Neck muscle weakness; Recurrent hypoglycemia; Reduced muscle carnitine level; VomitingRhabdomyolysis
SMAD315q22.3399.95%gene with protein product603109MADH3Abnormality iris morphology; Abnormality of the sternum; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Arachnodactyly; Arterial tortuosity; Ascending aortic dissection; Atrial fibrillation; Autosomal dominant inheritance; Bruising susceptibility; Camptodactyly; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Descending aortic dissection; Dural ectasia; Exertional dyspnea; High palate; Hip osteoarthritis; Hypertelorism; Hypertension; Inguinal hernia; Intervertebral disc degeneration; Joint laxity; Knee osteoarthritis; Left ventricular failure; Left ventricular hypertrophy; Mitral regurgitation; Mitral valve prolapse; Osteochondritis Dissecans; Paroxysmal dyspnea; Pes planus; Protrusio acetabuli; Scoliosis; Spondylolisthesis; Striae distensae; Umbilical hernia; Uterine prolapse
TAPT14p15.3299.91%gene with protein product612758Adducted thumb; Anteverted nares; Ascites; Autosomal recessive inheritance; Beaded ribs; Brachycephaly; Cardiomegaly; Cerebellar hypoplasia; Cleft palate; Decreased skull ossification; Flared metaphysis; Flat face; Flexion contracture; Fractured radius; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypertrophic cardiomyopathy; Hypospadias; Intrauterine growth retardation; Large fleshy ears; Limb undergrowth; Low-set ears; Microcephaly; Micrognathia; Micropenis; Multiple prenatal fractures; Multiple rib fractures; Osteopenia; Platyspondyly; Pleural effusion; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Pulmonary hypoplasia; Short femur; Short neck; Short nose; Short ribs; Single umbilical artery; Small for gestational age; Telecanthus; Thoracic hypoplasia; Unilateral cleft lip; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide nasal bridge; Wormian bones
TGFB21q41100%gene with protein product190220Abnormality iris morphology; Abnormality of the sternum; Aortic dissection; Aortic regurgitation; Arachnodactyly; Arterial tortuosity; Ascending aortic dissection; Autosomal dominant inheritance; Bruising susceptibility; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Dural ectasia; Exertional dyspnea; High palate; Hypertension; Inguinal hernia; Joint hyperflexibility; Left ventricular failure; Mitral valve prolapse; Paroxysmal dyspnea; Pes planus; Retrognathia; Scoliosis; Tall stature
TGFB314q24100%gene with protein product190230ARVD1, ARVDAbnormality iris morphology; Aortic regurgitation; Arachnodactyly; Ascending aortic dissection; Autosomal dominant inheritance; Bifid uvula; Bilateral coxa valga; Blue sclerae; Cardiomegaly; Chest pain; Cleft palate; Coronary artery atherosclerosis; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Descending aortic dissection; Exertional dyspnea; Exotropia; Heterogeneous; Hiatus hernia; High palate; Hypertelorism; Hypertension; Hyporeflexia; Increased arm span; Inguinal hernia; Joint hypermobility; Kyphoscoliosis; Left ventricular failure; Mitral regurgitation; Paroxysmal dyspnea; Pectus carinatum; Pectus excavatum; Pes planus; Proptosis; Retrognathia; Right ventricular cardiomyopathy; Short stature; Small for gestational age; Sudden cardiac death; Tall stature; Ventricular arrhythmia
TGFBR19q22.33100%gene with protein product190181MSSE, ESS1Abnormality iris morphology; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Arachnodactyly; Arterial dissection; Arterial tortuosity; Ascending aortic dissection; Atypical scarring of skin; Bifid uvula; Blue sclerae; Camptodactyly of finger; Cardiomegaly; Chest pain; Coronary artery atherosclerosis; Craniosynostosis; Cutis marmorata; Cystic medial necrosis of the aorta; Descending aortic dissection; Exertional dyspnea; High palate; Hypertelorism; Hypertension; Left ventricular failure; Malar flattening; Micrognathia; Oral cleft; Paroxysmal dyspnea; Patent ductus arteriosus; Pes planus; Scoliosis; Striae distensae; Tall stature; Uterine rupture
TGFBR23p24.1100%gene with protein product190182MFS2Abdominal pain; Abnormality iris morphology; Abnormality of the sternum; Abnormality of the voice; Anxiety; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Arachnodactyly; Arterial dissection; Arterial tortuosity; Ascending aortic dissection; Attention deficit hyperactivity disorder; Atypical scarring of skin; Autosomal dominant inheritance; Bifid uvula; Blue sclerae; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cardiomegaly; Chest pain; Clinodactyly of the 5th toe; Colon cancer; Constipation; Coronary artery atherosclerosis; Cough; Craniosynostosis; Cutis marmorata; Cystic medial necrosis of the aorta; Death in early adulthood; Death in infancy; Depressivity; Dermal translucency; Descending aortic dissection; Esophageal carcinoma; Exertional dyspnea; Exotropia; Fatigue; Feeding difficulties in infancy; Gastrointestinal hemorrhage; Generalized arterial tortuosity; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hypertelorism; Hypertension; Hypertonia; Increased intracranial pressure; Irritability; Joint contracture of the hand; Joint laxity; Left ventricular failure; Malabsorption; Malar flattening; Micrognathia; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Oral cleft; Paroxysmal dyspnea; Patent ductus arteriosus; Pes planus; Proptosis; Pulmonary artery aneurysm; Retrognathia; Scoliosis; Seizures; Squamous cell carcinoma; Striae distensae; Talipes equinovarus; Tall stature; Uterine rupture; 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
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
ZIC3Xq26.3100%gene with protein product300265HTX1Abdominal situs inversus; Abnormal vertebral morphology; Absent radius; Anal atresia; Asplenia; Atrial septal defect; Atrioventricular canal defect; Cardiomegaly; Common atrium; Dextrocardia; Enlarged kidney; Failure to thrive; Hand polydactyly; Hydrocephalus; Hydronephrosis; Hypertelorism; Mitral atresia; Patent ductus arteriosus; Phenotypic variability; Polysplenia; Posteriorly placed anus; Proximal placement of thumb; Pulmonic stenosis; Renal agenesis; Short humerus; Single ventricle; Tracheoesophageal fistula; Transposition of the great arteries; Urethral atresia; Ventricular septal defect; X-linked inheritance; X-linked recessive inheritanceHeterotaxy ; VACTERL Association


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