XomeDxSlice Tool

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

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Phenotypes
Increased intracranial pressure

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
DKK110q21.1100%gene with protein product605189Abnormality of the clivus; Abnormality of the eleventh cranial nerve; Abnormality of the twelfth cranial nerve; Abnormality of the vestibulocochlear nerve; Anteriorly placed odontoid process; Areflexia of upper limbs; Arnold-Chiari type I malformation; Bone pain; Cervical C2/C3 vertebral fusion; Cranial nerve compression; Cranial nerve paralysis; Distal peripheral sensory neuropathy; Dysesthesia; Dysphagia; Gait ataxia; Gait disturbance; Increased intracranial pressure; Lower limb hyperreflexia; Myelopathy; Neck pain; Nystagmus; Osteoporosis; Progressive cerebellar ataxia; Recurrent fractures; Recurrent paroxysmal headache; Scoliosis; Sensory impairment; Small posterior fossa; Stiff neck; Syringomyelia; Tinnitus; Vertebral compression fractures; Vertigo; Vocal cord paralysis
EPCAM2p2199.97%gene with protein product185535M4S1, MIC18, TACSTD1Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Failure to thrive; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypertonia; Increased intracranial pressure; Intractable diarrhea; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Villous atrophy; Weight loss
ERF19q13.2100%gene with protein product611888Abnormal facial shape; Abnormal form of the vertebral bodies; Anteverted nares; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Bronchomalacia; Cerebellar hypoplasia; Cognitive impairment; Conductive hearing impairment; Conjunctivitis; Convex nasal ridge; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; External ear malformation; Finger syndactyly; Flat occiput; Frontal bossing; High forehead; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Interstitial pulmonary abnormality; Lambdoidal craniosynostosis; Limitation of joint mobility; Low-set, posteriorly rotated ears; Malar flattening; Midface retrusion; Multiple suture craniosynostosis; Muscular hypotonia; Plagiocephaly; Polyhydramnios; Posterior plagiocephaly; Prominent forehead; Proptosis; Ptosis; Recurrent respiratory infections; Retrognathia; Short columella; Skeletal dysplasia; Stomatocytosis; Strabismus; Thick vermilion border; Tracheomalacia; TurricephalyBone Marrow Failure Syndromes
FAN115q13.3100%gene with protein product613534KIAA1018, MTMR15Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Elevated serum creatinine; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Glycosuria; Hypertonia; Increased blood urea nitrogen; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Nephronophthisis; Progressive; Proteinuria; Seizures; Stage 5 chronic kidney disease; Tubulointerstitial nephritis; Weight lossHeterotaxy
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
KRIT17q21.299.98%gene with protein product604214CCM1Abnormality of the musculature; Abnormality of the skin; Autosomal dominant inheritance; Cerebral calcification; Cerebral hemorrhage; Focal T2 hyperintense brainstem lesion; Focal T2 hypointense brainstem lesion; Headache; Hepatic vascular malformations; Heterogeneous; Incomplete penetrance; Increased intracranial pressure; Intracranial hemorrhage; Meningioma; Neuroma; Retinal vascular malformation; Scoliosis; SeizuresPalmoplantar keratoderma plus congenital ichthyosis
L1CAMXq2899.99%gene with protein product308840HSAS1, SPG1, HSAS, MASA, MIC5, S10Abnormal facial shape; Absent septum pellucidum; Adducted thumb; Aganglionic megacolon; Agenesis of corpus callosum; Aphasia; Aqueductal stenosis; Camptodactyly of finger; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Corticospinal tract hypoplasia; Delayed speech and language development; Flexion contracture of thumb; Gait disturbance; Hand clenching; Hemiplegia/hemiparesis; Hydrocephalus; Hyperlordosis; Hyperreflexia; Increased intracranial pressure; Inferior vermis hypoplasia; Intellectual disability; Intellectual disability, severe; Kyphosis; Macrocephaly; Microcephaly; Muscle weakness; Partial agenesis of the corpus callosum; Pes cavus; Seizures; Short stature; Shuffling gait; Spastic paraplegia; Spasticity; Strabismus; Talipes equinovarus; Ventriculomegaly; X-linked recessive inheritance
MLH13p22.299.99%gene with protein product120436COCA2Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MLH314q24.399.99%gene with protein product604395Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypertonia; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Weight loss
MSH22p21-p16.399.98%gene with protein productThe published inversion of exons 1-7 is not evaluated by XomeDxSlice but can be ordered separately: https://www.genedx.com/test-catalog/available-tests/msh2-exons-1-7-inversion-analysis/609309COCA1Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MSH62p16.3100%gene with protein product600678GTBPAbdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Incomplete penetrance; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Seizures; Weight loss
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
PDCD103q26.199.67%gene with protein product609118CCM3Abnormality of the cerebrum; Cerebral hemorrhage; Focal T2 hyperintense brainstem lesion; Focal T2 hypointense brainstem lesion; Headache; Increased intracranial pressure; Meningioma; Neuroma; Paralysis; Scoliosis; Seizures
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PIK3CA3q26.3299.76%gene with protein product171834Abdominal pain; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the cerebral vasculature; Abnormality of the penis; Adenoma sebaceum; Adult onset; Alveolar cell carcinoma; Angioid streaks of the fundus; Anxiety; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Asymmetric growth; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast carcinoma; Broad forehead; Capillary malformation; Cataract; Cavernous hemangioma; Cavum septum pellucidum; Cognitive impairment; Colon cancer; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial hyperostosis; Cutis marmorata; Death in early adulthood; Death in infancy; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dysgerminoma; Epicanthus; Facial asymmetry; Failure to thrive; Fatigue; Fibroadenoma of the breast; Finger syndactyly; Foot polydactyly; Frontal bossing; Full cheeks; Furrowed tongue; Gastrointestinal hemorrhage; Generalized hyperkeratosis; Generalized hypotonia; Glioblastoma multiforme; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hearing impairment; Hemihypertrophy; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Hernia; Heterogeneous; High forehead; High palate; Hydrocele testis; Hydrocephalus; Hypermelanotic macule; Hypertelorism; Hyperthyroidism; Hypertonia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intention tremor; Irritability; Joint hyperflexibility; Joint laxity; Kyphosis; Large earlobe; Leukemia; Lipoma; Macrocephaly; Macrodactyly; Macroglossia; Macule; Malabsorption; Megalencephaly; Melanocytic nevus; Meningioma; Micrognathia; Micronodular cirrhosis; Microphthalmia; Migraine; Mucosal telangiectasiae; Muscular hypotonia; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Nephroblastoma; Nevus flammeus; Numerous nevi; Ovarian cyst; Ovarian papillary adenocarcinoma; Overgrowth; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polydactyly; Polymicrogyria; Progressive macrocephaly; Renal cell carcinoma; Sandal gap; Scoliosis; Seizures; Skin tags; Smooth philtrum; Somatic mutation; Splenomegaly; Sporadic; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous lipoma; Subcutaneous nodule; Syndactyly; Telangiectasia of the skin; Thyroid adenoma; Thyroiditis; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Varicocele; Venous malformation; Ventricular septal defect; Ventriculomegaly; Verrucae; Visceral angiomatosis; Weight loss; Wide mouth
PMS12q32.299.63%gene with protein product600258PMSL1Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypertonia; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Weight loss
PMS27p22.196.7%gene with protein product600259PMSL2Abdominal pain; Abnormality of abdomen morphology; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neuroblastoma; Ovarian neoplasm; Rhabdomyosarcoma; Seizures; Weight loss
PRF110q22.1100%gene with protein product170280Anemia; Aplastic anemia; Ataxia; Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; CSF pleocytosis; Encephalitis; Failure to thrive; Generalized edema; Generalized hypotonia; Global developmental delay; Hemiplegia; Hemophagocytosis; Hepatomegaly; Hypertonia; Hypertriglyceridemia; Hypoalbuminemia; Hypofibrinogenemia; Hyponatremia; Hypoproteinemia; Increased CSF protein; Increased intracranial pressure; Increased serum ferritin; Increased total bilirubin; Irritability; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Meningitis; Prolonged prothrombin time; Seizures; Splenomegaly; Tetraplegia; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
SOST17q21.31100%gene with protein product6057402-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the nose; Abnormality of the ribs; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad clavicles; Broad ribs; Choanal stenosis; Coarse facial features; Cognitive impairment; Concave nasal ridge; Conductive hearing impairment; Constriction of peripheral visual field; Cortically dense long tubular bones; Cranial hyperostosis; Cranial nerve paralysis; Craniofacial hyperostosis; Craniofacial osteosclerosis; Curved distal phalanges of the hand; Dental malocclusion; Depressed nasal bridge; Deviation of finger; Diaphyseal sclerosis; Diaphyseal thickening; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Esotropia; Facial diplegia; Facial palsy; Facial palsy secondary to cranial hyperostosis; Fingernail dysplasia; Frontal bossing; Generalized osteosclerosis; Headache; Hearing impairment; Hypertelorism; Increased bone mineral density; Increased intracranial pressure; Infantile onset; Intellectual disability; Macrocephaly; Malar flattening; Mandibular prognathia; Midface retrusion; Nail dysplasia; Nystagmus; Optic atrophy; Optic atrophy from cranial nerve compression; Overgrowth; Papilledema; Progressive; Progressive visual loss; Proptosis; Ptosis; Sclerotic scapulae; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Sudden death; Tall stature; Thickened cortex of long bones; Thickened ribs; Visual loss; Wide nasal bridge
SOST17q21.31100%gene with protein product6057402-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the nose; Abnormality of the ribs; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad clavicles; Broad ribs; Choanal stenosis; Coarse facial features; Cognitive impairment; Concave nasal ridge; Conductive hearing impairment; Constriction of peripheral visual field; Cortically dense long tubular bones; Cranial hyperostosis; Cranial nerve paralysis; Craniofacial hyperostosis; Craniofacial osteosclerosis; Curved distal phalanges of the hand; Dental malocclusion; Depressed nasal bridge; Deviation of finger; Diaphyseal sclerosis; Diaphyseal thickening; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Esotropia; Facial diplegia; Facial palsy; Facial palsy secondary to cranial hyperostosis; Fingernail dysplasia; Frontal bossing; Generalized osteosclerosis; Headache; Hearing impairment; Hypertelorism; Increased bone mineral density; Increased intracranial pressure; Infantile onset; Intellectual disability; Macrocephaly; Malar flattening; Mandibular prognathia; Midface retrusion; Nail dysplasia; Nystagmus; Optic atrophy; Optic atrophy from cranial nerve compression; Overgrowth; Papilledema; Progressive; Progressive visual loss; Proptosis; Ptosis; Sclerotic scapulae; Sclerotic vertebral endplates; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Sudden death; Tall stature; Thickened cortex of long bones; Thickened ribs; Visual loss; Wide nasal bridge
TCF1215q21.3100%gene with protein product600480Autosomal dominant inheritance; Brachycephaly; Broad forehead; Craniosynostosis; Facial asymmetry; Frontal bossing; Hearing impairment; Increased intracranial pressure; Plagiocephaly; Proptosis; Strabismus; Underdeveloped supraorbital ridges; Visual field defect
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
TWIST17p21.199.38%gene with protein product601622ACS3, BPES3, TWIST, CRSAbnormal heart morphology; Abnormal morphology of the nasolacrimal system; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Absent first metatarsal; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharospasm; Brachycephaly; Brachydactyly; Breast carcinoma; Broad forehead; Broad hallux; Buphthalmos; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Convex nasal ridge; Coronal craniosynostosis; Craniosynostosis; Delayed cranial suture closure; Depressed nasal bridge; Dolichocephaly; Duplication of phalanx of hallux; External ear malformation; Facial asymmetry; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Hallux valgus; Hearing impairment; High forehead; Hyperlordosis; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Intellectual disability, moderate; Lambdoidal craniosynostosis; Long nose; Low anterior hairline; Low-set ears; Malar flattening; Microtia; Narrow internal auditory canal; Narrow nose; Narrow palate; Open bite; Oxycephaly; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Plagiocephaly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radioulnar synostosis; Scaphocephaly; Shallow orbits; Short stature; Skull asymmetry; Strabismus; Toe syndactyly; Turricephaly; Underdeveloped supraorbital ridges; Variable expressivity; Visual field defect
ZIC13q24100%gene with protein product600470Agenesis of corpus callosum; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Cerebellar atrophy; Coronal craniosynostosis; Craniosynostosis; Facial asymmetry; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertelorism; Increased intracranial pressure; Intellectual disability, moderate; Intellectual disability, severe; Oxycephaly; Papilledema; Plagiocephaly; Proptosis; Sagittal craniosynostosis; Strabismus; Underdeveloped supraorbital ridges; Visual field defect
ZIC13q24100%gene with protein product600470Agenesis of corpus callosum; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Cerebellar atrophy; Coronal craniosynostosis; Craniosynostosis; Facial asymmetry; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertelorism; Increased intracranial pressure; Intellectual disability, moderate; Intellectual disability, severe; Oxycephaly; Papilledema; Plagiocephaly; Proptosis; Sagittal craniosynostosis; Strabismus; Underdeveloped supraorbital ridges; Visual field defect


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