XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Generalized hypopigmentation

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
HERC215q13.199.37%gene with protein product605837Abdominal obesity; Aggressive behavior; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blue irides; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperactivity; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Mandibular prognathia; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palate; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Plagiocephaly; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Sandal gap; Scoliosis; Self-mutilation; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Strabismus; Thin upper lip vermilion; Unsteady gait; Ventriculomegaly
IPW15q11.2RNA, long non-codingXomeDxSlice is not appropriate.601491Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
LEMD312q14.399.93%gene with protein product607844Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autosomal dominant inheritance; Bone pain; Complete duplication of the distal phalanges of the hand; Connective tissue nevi; Delayed speech and language development; Ectopic kidney; Failure to thrive; Flat occiput; Flexion contracture; Generalized hypopigmentation; Generalized osteosclerosis; Global developmental delay; Hoarse voice; Hyperostosis; Hyperpigmentation of the skin; Hypertelorism; Increased bone mineral density; Intellectual disability, mild; Intrauterine growth retardation; Joint stiffness; Microcephaly; Nevus; Osteopoikilosis; Papule; Progressive; Scleroderma; Short stature; Skeletal dysplasia; Specific learning disability; Sporadic; Subcutaneous nodule; Tremor
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
MAGEL215q11.2100%gene with protein product605283NDNL1Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Coarse facial features; Constipation; Cryptorchidism; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Esotropia; Failure to thrive in infancy; Feeding difficulties; Flexion contracture; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Micropenis; Motor delay; Myopia; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Neonatal hypotonia; Obesity; Oligomenorrhea; Open mouth; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
MITF3p13100%gene with protein product156845WS2A, WS2Abnormal anterior chamber morphology; Abnormality of the hair; Abnormality of the lymphatic system; Albinism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Blue irides; Coloboma; Congenital sensorineural hearing impairment; Dry skin; Freckling; Frontal bossing; Generalized hypopigmentation; Generalized hypotonia; Giant melanosomes in melanocytes; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic iris stroma; Macrocephaly; Melanoma; Micrognathia; Multiple lentigines; Nevus; Nystagmus; Ocular albinism; Optic nerve dysplasia; Osteopetrosis; Partial albinism; Photophobia; Posteriorly rotated ears; Preauricular pit; Premature graying of hair; Reduced visual acuity; Sensorineural hearing impairment; Shallow orbits; Strabismus; Synophrys; Underdeveloped nasal alae; Variable expressivity; Vestibular hypofunction; Visual impairment; White eyebrow; White eyelashes; White forelock; Wide nasal bridge; X-linked inheritanceAlbinism ; Waardenburg Syndrome
MKRN315q11.2100%gene with protein product603856ZNF127, D15S9Abdominal obesity; Accelerated skeletal maturation; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Premature thelarche; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
MKRN3-AS115q11-q13RNA, long non-codingXomeDxSlice is not appropriate.603857ZNF127AS, MKRN3AS, MKRN3-ASAbdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
NDN15q11.2100%gene with protein product602117Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
NPAP115q11.2100%gene with protein product610922C15orf2Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
PAH12q23.2100%gene with protein product612349Aggressive behavior; Anxiety; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Blue irides; Cataract; Cerebral calcification; Depressivity; Dry skin; Eczema; Fair hair; Generalized hypopigmentation; Global developmental delay; Growth delay; Hyperphenylalaninemia; Hyperreflexia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Increased level of hippuric acid in urine; Intellectual disability; Intellectual disability, severe; Irritability; Maternal hyperphenylalaninemia; Memory impairment; Microcephaly; Nausea and vomiting; Obsessive-compulsive behavior; Phenylpyruvic acidemia; Psychosis; Reduced phenylalanine hydroxylase activity; Scleroderma; Seizures; Self-mutilation; Tremor
PMPCA9q34.3100%gene with protein product613036INPP5EAbnormality of the retinal vasculature; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Cataract; Cerebellar hypoplasia; Delayed speech and language development; Dysarthria; Dysmetria; Gait ataxia; Gait disturbance; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Hyperreflexia; Incoordination; Infantile onset; Intellectual disability; Limb ataxia; Malabsorption; Muscular hypotonia; Nonprogressive; Nystagmus; Ocular albinism; Saccadic smooth pursuit; Scoliosis; Spasticity; Tremor; Unsteady gait; White hair
PWAR115q11.2RNA, long non-codingXomeDxSlice is not appropriate.600161Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
PWRN115q11.2RNA, long non-codingXomeDxSlice is not appropriate.611215Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
SNORD115-115q11.2RNA, small nucleolarXomeDxSlice is not appropriate.609837Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
SNORD116-115q11.2RNA, small nucleolarXomeDxSlice is not appropriate.605436Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infertility; Kyphosis; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; Ventriculomegaly
SNRPN15q11.2100%gene with protein product182279PWCRAbdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autism; Childhood onset; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; EEG abnormality; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Heterogeneous; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired ability to form peer relationships; Impaired pain sensation; Impaired use of nonverbal behaviors; Increased serum serotonin; Infertility; Inflexible adherence to routines or rituals; Intellectual disability; Kyphosis; Lack of spontaneous play; Micropenis; Motor delay; Multifactorial inheritance; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Restrictive behavior; Scoliosis; Seizures; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Stereotypy; Thin upper lip vermilion; Ventriculomegaly
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia


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