XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Telangiectasia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
ATR3q2399.98%gene with protein product60121511 pairs of ribs; Abnormal finger flexion creases; Abnormality of dental enamel; Abnormality of the pinna; Abnormally large globe; Absent earlobe; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Cachexia; Carious teeth; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cognitive impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Convex nasal ridge; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Dislocated radial head; Downslanted palpebral fissures; Elbow flexion contracture; Facial asymmetry; Glaucoma; High palate; Hip dislocation; Hip dysplasia; Hyperactivity; Hypoplasia of dental enamel; Hypoplasia of proximal fibula; Hypoplasia of proximal radius; Hypospadias; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses; Joint hyperflexibility; Large basal ganglia; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Pancytopenia; Pes planus; Postnatal growth retardation; Prematurely aged appearance; Prominent nose; Proportionate short stature; Reduced number of teeth; Sandal gap; Scoliosis; Seizures; Selective tooth agenesis; Short stature; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse scalp hair; Strabismus; Talipes; TelangiectasiaAplastic Anemia ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Obesity
BMPR22q33.1-q33.2100%gene with protein product600799PPH1Abnormal thrombosis; Arterial intimal fibrosis; Autosomal dominant inheritance; Dyspnea; Elevated jugular venous pressure; Elevated right atrial pressure; Hypertension; Incomplete penetrance; Increased pulmonary vascular resistance; Pulmonary arterial hypertension; Pulmonary arterial medial hypertrophy; Pulmonary artery vasoconstriction; Pulmonary aterial intimal fibrosis; Pulmonary venous occlusion; Right ventricular failure; Right ventricular hypertrophy; Telangiectasia
CCM27p1399.85%gene with protein product607929C7orf22Autosomal dominant inheritance; Cerebral hemorrhage; Focal T2 hyperintense brainstem lesion; Focal T2 hypointense brainstem lesion; Headache; Heterogeneous; Increased intracranial pressure; Meningioma; Neuroma; Scoliosis; Seizures; Stroke; Telangiectasia
DDB211p11.2100%gene with protein product600811Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
GDF210q11.22100%gene with protein product605120Autosomal dominant inheritance; Cavernous hemangioma; Cholecystitis; Epistaxis; Microcytic anemia; Migraine; Portal hypertension; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Telangiectasia; Telangiectasia of the skin; Visceral angiomatosis
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
MRE1111q2199.94%gene with protein productFormer name = MRE11A600814MRE11AAbnormality of the fallopian tube; Autosomal recessive inheritance; Breast carcinoma; Cerebellar atrophy; Chorea; Distal amyotrophy; Dysarthria; Dysdiadochokinesis; Dystonia; Frequent falls; Gait ataxia; Gaze-evoked nystagmus; Hypometric saccades; Hyporeflexia; Impaired smooth pursuit; Lower limb spasticity; Oculomotor apraxia; Ovarian neoplasm; Primary peritoneal carcinoma; Progressive; Telangiectasia; Variable expressivityAutoimmune Disorders ; Heterotaxy
POLD119q13.399.99%gene with protein product174761POLDAutosomal dominant inheritance; Convex nasal ridge; Cryptorchidism; Dental crowding; Dermal atrophy; Diabetes mellitus; Elevated hepatic transaminases; Flexion contracture; Hepatic steatosis; Hepatomegaly; High pitched voice; Hypertriglyceridemia; Hypogonadism; Insulin resistance; Kyphosis; Lack of skin elasticity; Lipodystrophy; Micrognathia; Narrow mouth; Osteoporosis; Proptosis; Scoliosis; Sensorineural hearing impairment; Telangiectasia
POLH6p21.199.98%gene with protein product603968Autosomal recessive inheritance; Basal cell carcinoma; Conjunctivitis; Cutaneous melanoma; Cutaneous photosensitivity; Dermal atrophy; Dry skin; Ectropion; Entropion; Freckles in sun-exposed areas; Hypopigmentation of the skin; Keratitis; Melanoma; Photophobia; Poikiloderma; Squamous cell carcinoma; Telangiectasia
POLH6p21.199.98%gene with protein product603968Autosomal recessive inheritance; Basal cell carcinoma; Conjunctivitis; Cutaneous melanoma; Cutaneous photosensitivity; Dermal atrophy; Dry skin; Ectropion; Entropion; Freckles in sun-exposed areas; Hypopigmentation of the skin; Keratitis; Melanoma; Photophobia; Poikiloderma; Squamous cell carcinoma; Telangiectasia
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia; Nail dystrophy; Narrow nasal bridge; Nystagmus; Oligodontia; Omphalocele; Open bite; Optic atrophy; Osteopathia striata; Papilloma; Patchy alopecia; Pointed chin; Postaxial hand polydactyly; Reduced number of teeth; Reduced visual acuity; Reticular hyperpigmentation; Rough bone trabeculation; Scoliosis; Short clavicles; Short finger; Short metacarpal; Short metatarsal; Short phalanx of finger; Short ribs; Short stature; Sparse hair; Spina bifida; Spina bifida occulta; Split foot; Split hand; Stenosis of the external auditory canal; Strabismus; Subcutaneous nodule; Supernumerary nipple; Telangiectasia; Telangiectasia of the skin; Thin skin; Toe syndactyly; Umbilical hernia; Upper limb asymmetry; Ureteral duplication; Visual impairment; X-linked dominant inheritanceEctodermal Dysplasia
RECQL48q24.399.97%gene with protein product603780Abnormal heart morphology; Abnormal vertebral morphology; Abnormality of the carpal bones; Abnormality of the kidney; Abnormality of the metacarpal bones; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Absent radius; Absent thumb; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Anal atresia; Annular pancreas; Anomalous splenoportal venous system; Anteriorly placed anus; Aphalangy of the hands; Aplasia of metacarpal bones; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Autosomal recessive inheritance; Basal cell carcinoma; Bicoronal synostosis; Bifid uvula; Blepharophimosis; Bowing of the long bones; Brachyturricephaly; Brittle hair; Carpal bone aplasia; Carpal synostosis; Cataract; Choanal stenosis; Cleft palate; Concave nasal ridge; Conductive hearing impairment; Coronal craniosynostosis; Cryptorchidism; Cutaneous photosensitivity; Delayed eruption of teeth; Dermal atrophy; Diarrhea; Downslanted palpebral fissures; Epicanthus; Failure to thrive in infancy; Flat forehead; Forearm reduction defects; Frontal bossing; Glaucoma; Growth delay; Hand oligodactyly; Hearing impairment; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the radius; Hypoplasia of the ulna; Hypotrichosis; Increased number of teeth; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Juvenile zonular cataracts; Lambdoidal craniosynostosis; Large fontanelles; Limited elbow movement; Limited shoulder movement; Long face; Low-set, posteriorly rotated ears; Malabsorption; Mandibular prognathia; Microcornea; Microdontia; Micrognathia; Microphthalmia; Midface capillary hemangioma; Mottled pigmentation; Myopia; Nail dystrophy; Narrow mouth; Optic atrophy; Osteoporosis; Osteosarcoma; Palmoplantar keratoderma; Patellar hypoplasia; Perineal fistula; Poikiloderma; Polymicrogyria; Premature graying of hair; Prematurely aged appearance; Prominent nasal bridge; Proptosis; Rectovaginal fistula; Rib fusion; Sagittal craniosynostosis; Scoliosis; Seizures; Short chin; Short foot; Short humerus; Short nose; Short palm; Short stature; Short thumb; Skeletal dysplasia; Slender nose; Small hand; Sparse hair; Spina bifida occulta; Squamous cell carcinoma; Stiff interphalangeal joints; Strabismus; Talipes equinovarus; Telangiectasia; Ulnar bowing; Underdeveloped nasal alaeVACTERL Association
RNF21317q25.3100%gene with protein product613768C17orf27, KIAA1618, MYMY2Abnormality of the cerebral vasculature; Intellectual disability; Seizures; Telangiectasia; Ventriculomegaly
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
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
TMEM1735q31.2100%gene with protein product612374Anemia; Autosomal dominant inheritance; Cutis marmorata; Elevated erythrocyte sedimentation rate; Erythema; Failure to thrive; Fever; Follicular hyperplasia; Growth delay; Increased antibody level in blood; Interstitial pulmonary abnormality; Leukopenia; Malar rash; Nail dystrophy; Neonatal onset; Pustule; Recurrent respiratory infections; Telangiectasia; Thrombocytosis; Variable expressivityAutoimmune Disorders
TREX13p21.31100%gene with protein product606609AGS1Abnormality of extrapyramidal motor function; Abnormality of the periventricular white matter; Abnormality of the retinal vasculature; Acrocyanosis; Adult onset; Apraxia; Arrhinencephaly; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Central nervous system degeneration; Cerebral atrophy; Chilblain lesions; Chronic CSF lymphocytosis; Deep white matter hypodensities; Dementia; Dysarthria; Dystonia; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties in infancy; Fever; Focal white matter lesions; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia/hemiparesis; Hepatosplenomegaly; Increased CSF interferon alpha; Intellectual disability, profound; Juvenile onset; Leukodystrophy; Leukoencephalopathy; Limb pain; Lower limb hyperreflexia; Macular edema; Mental deterioration; Migraine; Morphological abnormality of the pyramidal tract; Multiple gastric polyps; Muscular hypotonia of the trunk; Nystagmus; Petechiae; Poor head control; Porencephalic cyst; Progressive; Progressive encephalopathy; Progressive forgetfulness; Progressive microcephaly; Progressive visual loss; Prolonged neonatal jaundice; Proteinuria; Punctate vasculitis skin lesions; Raynaud phenomenon; Retinal exudate; Retinal hemorrhage; Retinopathy; Seizures; Skin ulcer; Spasticity; Strabismus; Stroke; Telangiectasia; Thrombocytopenia; Vasculitis in the skin; Visual impairmentAutoimmune Disorders
UVSSA4p16.3100%gene with protein product614632KIAA1530Autosomal recessive inheritance; Cutaneous photosensitivity; Dry skin; Freckling; Increased cellular sensitivity to UV light; Infantile onset; Telangiectasia
XPA9q22.33100%gene with protein product611153Abnormality of the dentition; Arthralgia; Ataxia; Autosomal recessive inheritance; Cataract; Choreoathetosis; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Mental deterioration; Microcephaly; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Spasticity; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
XPC3p25.1100%gene with protein product613208Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Childhood onset; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmentation of the skin; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin


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