XomeDxSlice Tool

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Phenotypes
Decreased liver function

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADK10q22.2100%gene with protein product102750Autosomal recessive inheritance; Cerebral atrophy; Cholestasis; Decreased liver function; Delayed speech and language development; Elevated hepatic transaminases; Failure to thrive; Frontal bossing; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hyperbilirubinemia; Hypermethioninemia; Hypertelorism; Infantile onset; Macrocephaly; Narrow foot; Poor speech; Portal fibrosis; Progressive; Seizures; Skeletal muscle atrophy
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
BLVRA7p13100%gene with protein product109750BLVRAutosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Cholestasis; Decreased liver function
COA52q11.2100%gene with protein product613920C2orf64Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Congenital onset; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COA71p32.3100%gene with protein product615623C1orf163, SELRC1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COG21q42.299.94%gene with protein product606974LDLCAutosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin; Diffuse cerebral atrophy; Elevated hepatic transaminases; Generalized tonic seizures; Global developmental delay; Hepatosplenomegaly; Hypocupremia; Hypoplasia of the corpus callosum; Infantile onset; Postnatal microcephaly; Seizures; Small pituitary gland; Spastic tetraplegia
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1412q13.12100%gene with protein product614478C12orf62Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX201q44100%gene with protein product614698FAM36AAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX6B119q13.12100%gene with protein product124089COX6BAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
DDOST1p36.12100%gene with protein product602202Abnormality of the coagulation cascade; Accelerated skeletal maturation; Autosomal recessive inheritance; CNS hypomyelination; Constipation; Decreased liver function; Elevated hepatic transaminases; Esotropia; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Infantile onset; Neurodevelopmental delay; Neurological speech impairment; Oromotor apraxia; Osteopenia; Recurrent ear infections; Seizures; Short stature; Strabismus; Tremor; Type I transferrin isoform profile
FADD11q13.3100%gene with protein product602457Autosomal recessive inheritance; Cerebral atrophy; Decreased liver function; Encephalopathy; Hepatic fibrosis; Pulmonary artery atresia; Recurrent infections; Seizures; Ventricular septal defectAutoimmune Disorders
FADD11q13.3100%gene with protein product602457Autosomal recessive inheritance; Cerebral atrophy; Decreased liver function; Encephalopathy; Hepatic fibrosis; Pulmonary artery atresia; Recurrent infections; Seizures; Ventricular septal defectAutoimmune Disorders
FASTKD22q33.399.99%gene with protein product612322KIAA0971Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
GALT9p13.3100%gene with protein product606999Abnormal bleeding; Abnormality of the ovary; Aminoaciduria; Autosomal recessive inheritance; Cataract; Cirrhosis; Decreased fertility in females; Decreased liver function; Diarrhea; Failure to thrive; Feeding difficulties; Galactosuria; Hemolytic anemia; Hepatic failure; Hepatomegaly; Hyperchloremic metabolic acidosis; Hypergalactosemia; Hypergonadotropic hypogonadism; Hypoglycemia; Impairment of galactose metabolism; Increased level of galactitol in plasma; Increased level of galactitol in red blood cells; Increased level of galactitol in urine; Increased level of galactonate in red blood cells; Intellectual disability; Jaundice; Metabolic acidosis; Nausea and vomiting; Osteoporosis; Premature ovarian insufficiency; Speech apraxia; Speech articulation difficulties; Vomiting; Weight lossAutoimmune Disorders
LARS23p21.31100%gene with protein product604544Arrhythmia; Autosomal recessive inheritance; Congenital onset; Decreased liver function; EEG abnormality; Hypoplasia of the uterus; Intrauterine growth retardation; Lactic acidosis; Oligohydramnios; Patent ductus arteriosus; Premature ovarian insufficiency; Primary amenorrhea; Progressive hearing impairment; Respiratory insufficiency; Seizures; Sideroblastic anemia; Thrombocytopenia; Ventricular septal defect
LIPT12q11.2100%gene with protein product610284Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Autosomal recessive inheritance; Bradycardia; Cerebellar atrophy; Death in infancy; Decreased liver function; Delayed myelination; Dystonia; Elevated hepatic transaminases; Global developmental delay; Increased serum lactate; Increased total bilirubin; Infantile onset; Lactic acidosis; Muscular hypotonia of the trunk; Pulmonary arterial hypertension; Spastic tetraparesis
MARS12q13.3100%gene with protein product156560Alveolar proteinosis; Aminoaciduria; Anemia; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Clubbing; Cough; Decreased liver function; Distal sensory impairment; Dyspnea; Elevated hepatic transaminases; Failure to thrive; Foot dorsiflexor weakness; Hepatic steatosis; Hepatomegaly; Hypothyroidism; Interstitial pulmonary abnormality; Peripheral axonal neuropathy; Progressive; Respiratory insufficiency; Slow progression; Steppage gait; Variable expressivity
MTM1Xq2899.73%gene with protein product300415Arachnodactyly; Areflexia; Atrioventricular block; Birth length greater than 97th percentile; Cavernous hemangioma; Cryptorchidism; Decreased fetal movement; Decreased liver function; Diaphragmatic eventration; EMG abnormality; External ophthalmoplegia; Facial palsy; Flexion contracture; Gait disturbance; Generalized muscle weakness; Head tremor; High palate; Hydrocephalus; Hypokinesia; Long face; Macrocephaly; Mask-like facies; Muscular hypotonia; Narrow face; Neck muscle weakness; Neonatal respiratory distress; Polyhydramnios; Ptosis; Pyloric stenosis; Respiratory failure requiring assisted ventilation; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slender toe; X-linked recessive inheritanceRhabdomyolysis
OCLN5q13.282.5%gene with protein product602876Abnormality of movement; Anteverted nares; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Decreased liver function; Elevated hepatic transaminases; Failure to thrive; Global developmental delay; Hepatomegaly; High palate; Hyperreflexia; Increased CSF protein; Intellectual disability, profound; Jaundice; Lissencephaly; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Petechiae; Phenotypic variability; Polymicrogyria; Seizures; Sloping forehead; Spasticity; Splenomegaly; Thrombocytopenia; Ventriculomegaly
PET10019p13.299.94%gene with protein product614770C19orf79Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
PEX101p36.32100%gene with protein product602859Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
RMND16q25.199.93%gene with protein product614917C6orf96Areflexia; Autosomal recessive inheritance; Cerebral cortical atrophy; CNS hypomyelination; Congenital onset; Death in infancy; Decreased liver function; Delayed myelination; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic steatosis; Hypoplasia of the corpus callosum; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Lethargy; Myopathy; Pachygyria; Renal cyst; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Seizures; Severe muscular hypotonia; Variable expressivity
SCO117p13.199.99%gene with protein product603644SCOD1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
SLC25A1513q14.11100%gene with protein product603861ORNT1, HHHAbnormal pyramidal signs; Acute encephalopathy; Acute hepatitis; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Coma; Decreased liver function; Decreased nerve conduction velocity; Episodic vomiting; Failure to thrive; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperornithinemia; Hypopigmentation of the fundus; Impaired vibratory sensation; Intellectual disability; Lethargy; Morphological abnormality of the pyramidal tract; Phenotypic variability; Poor coordination; Protein avoidance; Spastic paraparesis; Specific learning disability
SLC30A101q41100%gene with protein product611146Autosomal recessive inheritance; Bradykinesia; Cirrhosis; Decreased liver function; Dysarthria; Dystonia; Elevated hepatic transaminases; Hepatomegaly; Increased total iron binding capacity; Parkinsonism; Polycythemia; Poor fine motor coordination; Postural instability; Rigidity; Tremor; Variable expressivity
STT3B3p2399.96%gene with protein product608605Abnormal glycosylation; Autosomal recessive inheritance; Cerebellar atrophy; Congenital onset; Cryptorchidism; Death in childhood; Decreased liver function; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Intellectual disability; Intrauterine growth retardation; Microcephaly; Micropenis; Optic atrophy; Respiratory distress; Scrotal hypoplasia; Seizures; Thrombocytopenia
TACO117q23.3100%gene with protein product612958CCDC44Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
TALDO111p15.5100%gene with protein product602063Abnormal facial shape; Abnormality of glutamine metabolism; Abnormality of the clitoris; Abnormality of the kidney; Anemia; Asthma; Autosomal recessive inheritance; Cirrhosis; Clitoral hypertrophy; Coarctation of aorta; Decreased liver function; Deep philtrum; Depressed nasal bridge; Failure to thrive; Hepatic fibrosis; Hepatomegaly; Hepatosplenomegaly; Hydrops fetalis; Increased serum bile acid concentration; Intrauterine growth retardation; Low-set ears; Micronodular cirrhosis; Oligohydramnios; Pancytopenia; Patent ductus arteriosus; Patent foramen ovale; Poor suck; Premature skin wrinkling; Short philtrum; Small for gestational age; Splenomegaly; Synophrys; Telangiectasia; Thin vermilion border; Thrombocytopenia; Triangular face; Ventricular septal defect; Wide anterior fontanel; Wide mouthDisorders of Sex Development; Palmoplantar keratoderma plus congenital ichthyosis
TMEM19917q11.2100%gene with protein product616815C17orf32Autosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin
TRMT10C3q12.3100%gene with protein product615423RG9MTD1Autosomal recessive inheritance; Congenital onset; Decreased liver function; Elevated hepatic transaminases; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Hyperalaninemia; Increased CSF lactate; Increased serum lactate; Lactic acidosis
USP1822q11.295.82%gene with protein product607057Ascites; Autosomal recessive inheritance; Bradycardia; Cerebellar hypoplasia; Cerebral calcification; Cerebral hemorrhage; Congenital onset; Decreased liver function; Generalized hypotonia; Hepatomegaly; Heterotopia; Lactic acidosis; Lethargy; Microcephaly; Patent ductus arteriosus; Petechiae; Polymicrogyria; Respiratory insufficiency; Thrombocytopenia; Ventriculomegaly


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