XomeDxSlice Tool

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Phenotypes
Hypermelanotic macule

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB62q35100%gene with protein product605452Autosomal dominant inheritance; Coloboma; Cutaneous photosensitivity; Freckling; Hearing impairment; Hyperkalemia; Hypermelanotic macule; Hypertension; Multiple cafe-au-lait spots; Spotty hypopigmentation; StomatocytosisHemolytic Anemia
ABCC616p13.1193.19%gene with protein product603234ARA, PXEAbnormality of the cerebral vasculature; Abnormality of the mouth; Abnormality of the sternum; Accelerated atherosclerosis; Angina pectoris; Angioid streaks of the fundus; Arterial stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Calcification of falx cerebri; Cerebral hemorrhage; Civatte bodies; Congestive heart failure; Coronary artery calcification; Excessive wrinkled skin; Gastrointestinal hemorrhage; High palate; High, narrow palate; Hypermelanotic macule; Intermittent claudication; Kyphosis; Macular degeneration; Medial calcification of large arteries; Medial calcification of medium-sized arteries; Mitral stenosis; Mitral valve prolapse; Myopia; Premature occlusive vascular stenosis; Reduced visual acuity; Renal insufficiency; Restrictive cardiomyopathy; Retinal hemorrhage; Retinopathy; Scoliosis; Skin rash; Striae distensae; Stroke; Thickened nuchal skin fold; Visual impairment; Yellow papule
ACP519p13.2100%gene with protein product171640Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cellular immunodeficiency; Combined immunodeficiency; Decrease in T cell count; Delayed eruption of teeth; Hyperlordosis; Hypermelanotic macule; Hypopigmented skin patches on arms; Hypothyroidism; Immune dysregulation; Irregular vertebral endplates; Juvenile onset; Kyphoscoliosis; Kyphosis; Large iliac wings; Low-set ears; Lumbar hyperlordosis; Lymphadenopathy; Metaphyseal irregularity; Metaphyseal sclerosis; Micromelia; Narrow nose; Platyspondyly; Pneumonia; Progressive spastic quadriplegia; Purpura; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Restrictive ventilatory defect; Rheumatoid arthritis; Rhizomelia; Short stature; Spastic diplegia; Spondylometaphyseal dysplasia; Tubulointerstitial fibrosis; VitiligoAutoimmune Disorders
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ATP2A212q24.11100%gene with protein product108740ATP2B, DARAbnormality of the hair; Acrokeratosis; Anal mucosal leukoplakia; Autosomal dominant inheritance; Bipolar affective disorder; Enlargement of parotid gland; Epidermal acanthosis; Hyperkeratosis; Hypermelanotic macule; Intellectual disability, mild; Palmar pits; Palmoplantar keratoderma; Plantar pits; Pruritus; Ridged nail; Schizophrenia; Seizures; Subungual hyperkeratotic fragmentsPalmoplantar keratoderma plus congenital ichthyosis
C1R12p13.3144.8%gene with protein product613785Agenesis of permanent teeth; Alveolar bone loss around teeth; Arthralgia; Arthritis; Atrophic scars; Atrophy of alveolar ridges; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bruising susceptibility; Complement deficiency; Discoid lupus rash; Gingival bleeding; Gingival overgrowth; Gingival recession; Hoarse voice; Hyperextensible skin; Hypermelanotic macule; Inguinal hernia; Joint hyperflexibility; Joint laxity; Microdontia; Nephritis; Palmoplantar cutis laxa; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Short stature; Soft skin; Thin skinAlbinism
C1S12p13.3199.99%gene with protein product120580Abnormality of complement system; Agenesis of permanent teeth; Atrophic scars; Atrophy of alveolar ridges; Autosomal dominant inheritance; Bruising susceptibility; Fragile skin; Gingival overgrowth; Hashimoto thyroiditis; Hepatitis; Hyperextensible skin; Hypermelanotic macule; Joint hyperflexibility; Joint hypermobility; Microdontia; Neoplasm; Periodontitis; Short stature; Systemic lupus erythematosusAlbinism ; Autoimmune Disorders
CPOX3q11.2100%gene with protein product612732CPOAbdominal pain; Abnormal blistering of the skin; Abnormality of metabolism/homeostasis; Acute episodes of neuropathic symptoms; Anxiety; Autosomal dominant inheritance; Confusion; Congenital hemolytic anemia; Constipation; Cutaneous photosensitivity; Depressivity; Diarrhea; Hallucinations; Hepatomegaly; Hypermelanotic macule; Hypertension; Incomplete penetrance; Insomnia; Irritability; Jaundice; Myalgia; Nausea and vomiting; Paranoia; Peripheral neuropathy; Respiratory paralysis; Splenomegaly; Tachycardia; Thin skin; Vomiting
CTC117p13.1100%gene with protein product613129C17orf68Abnormal blistering of the skin; Abnormal pyramidal signs; Abnormality of coagulation; Abnormality of extrapyramidal motor function; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Ataxia; Autosomal recessive inheritance; Blindness; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebral calcification; Dysarthria; Dystonia; Esophageal stenosis; Exudative retinopathy; Genu valgum; Global developmental delay; Hemiplegia; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Infantile onset; Intestinal bleeding; Intrauterine growth retardation; Leukodystrophy; Leukoencephalopathy; Malabsorption; Mental deterioration; Metaphyseal sclerosis; Morphological abnormality of the pyramidal tract; Nail dysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteopenia; Osteoporosis; Pathologic fracture; Periodontitis; Phenotypic variability; Postnatal growth retardation; Progressive; Recurrent fractures; Recurrent respiratory infections; Retinal telangiectasia; Rough bone trabeculation; Scoliosis; Seizures; Short femoral neck; Short stature; Skin ulcer; Sparse hair; Spasticity; Taurodontia; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Tremor; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
CYBA16q24.299.98%gene with protein product608508Abnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Autosomal recessive inheritance; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Deficiency or absence of cytochrome b(-245); Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Sinusitis; Splenomegaly; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
CYBBXp21.1-p11.499.99%gene with protein product300481CGDAbnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Deficiency or absence of cytochrome b(-245); Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent mycobacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Severe recurrent varicella; Sinusitis; Splenomegaly; Tracheoesophageal fistula; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
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
DKC1Xq2899.99%gene with protein product300126DKCAbnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Acute myeloid leukemia; Alopecia; Anal mucosal leukoplakia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Blepharitis; Bone marrow hypocellularity; Carious teeth; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Conjunctivitis; Cryptorchidism; Decreased testicular size; Dermal atrophy; Epiphora; Esophageal stenosis; Esophageal stricture; Excessive wrinkled skin; Failure to thrive; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hodgkin lymphoma; Horseshoe kidney; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypertonia; Hypodontia; Hypopigmented skin patches; Hypospadias; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Myelodysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phimosis; Premature graying of hair; Premature loss of teeth; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Restrictive ventilatory defect; Reticulated skin pigmentation; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse eyelashes; Sparse hair; Sparse scalp hair; Split nail; Squamous cell carcinoma; Strabismus; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
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
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GJB31p34.3100%gene with protein product603324DFNA2, EKVAbnormal blistering of the skin; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Digenic inheritance; Dry skin; Epidermal acanthosis; Erythema; Generalized hyperkeratosis; Glaucoma; High-frequency hearing impairment; Hypergranulosis; Hypermelanotic macule; Infantile onset; Microcephaly; Patchy palmoplantar keratoderma; Sensorineural hearing impairment; Short stature; Skin rash; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
GJB41p34.3100%gene with protein product605425Abnormal blistering of the skin; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Dry skin; Epidermal acanthosis; Erythema; Generalized hyperkeratosis; Glaucoma; Hypergranulosis; Hypermelanotic macule; Infantile onset; Microcephaly; Patchy palmoplantar keratoderma; Short stature; Skin rash; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
GNAQ9q21.2100%gene with protein productcause of Sturge-Weber syndrome due to somatic mosaicism in AFFECTED tissue600998Arachnoid hemangiomatosis; Arteriovenous malformation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Buphthalmos; Capillary hemangiomas; Cerebral cortical atrophy; Choroidal hemangioma; Choroidal melanoma; Ciliary body melanoma; Facial hemangioma; Glaucoma; Hypermelanotic macule; Hyperreflexia; Intellectual disability; Iris melanoma; Macrocephaly; Nevus flammeus; Optic atrophy; Papule; Retinal detachment; Seizures; Sporadic; Strabismus; Stroke; Visual loss
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
KDSR18q21.3399.9%gene with protein product136440FVT1Abnormal blistering of the skin; Alopecia; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Dry skin; Epidermal acanthosis; Erythema; Glaucoma; Hypermelanotic macule; Microcephaly; Palmoplantar keratoderma; Patchy palmoplantar keratoderma; Short stature; Skin plaque; Skin rash; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
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
MMP216q12.2100%gene with protein product120360CLG4, CLG4AAbnormality of the ear; Abnormality of the thorax; Ankle contracture; Ankylosis of feet small joints; Antinuclear antibody positivity; Arthralgia; Autosomal recessive inheritance; Brachycephaly; Broad metatarsal; Bulbous nose; C1-C2 subluxation; Camptodactyly of toe; Carpal osteolysis; Coarse facial features; Delayed closure of the anterior fontanelle; Delayed eruption of teeth; Distal tapering of metatarsals; Frontal bossing; Gait disturbance; Gingival overgrowth; Hip contracture; Hirsutism; Hypermelanotic macule; Hypertelorism; Hypoplasia of the maxilla; Infantile onset; Interphalangeal joint contracture of finger; Interphalangeal joint erosions; Juvenile onset; Kyphoscoliosis; Metacarpal osteolysis; Metaphyseal widening; Metatarsal osteolysis; Micrognathia; Narrow nasal bridge; Osteolysis involving tarsal bones; Osteopenia; Osteoporosis; Peripheral opacification of the cornea; Pes cavus; Pes planus; Proptosis; Protrusio acetabuli; Sclerotic cranial sutures; Short stature; Split hand; Subcutaneous nodule; Thickened skin; Thin metacarpal cortices; Thin metatarsal cortices; Vertebral compression fractures; Widened metacarpal shaft; Wrist flexion contractureHeterotaxy
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
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
NCF17q11.2359.72%gene with protein productPlease note that the common pathogenic variant c.75_76delGT is not detectable by XomeDxSlice. NCF1 analysis is available through the Chronic Granulomatous Disease Panel on the Rare Disorders menu: https://www.genedx.com/test-catalog/available-tests/chronic-granulomatous-disease-panel/608512Abnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Autosomal recessive inheritance; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Sinusitis; Splenomegaly; Tracheoesophageal fistulaInflammatory Bowel Disease ; Primary Immunodeficiency
NCF21q25.399.98%gene with protein product608515Abnormality of neutrophils; Absence of bactericidal oxidative respiratory burst in phagocytes; Autosomal recessive inheritance; Cellulitis; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Decreased activity of NADPH oxidase; Discoid lupus rash; Eczematoid dermatitis; Fever; Granulomatosis; Hepatomegaly; Hypermelanotic macule; Juvenile onset; Liver abscess; Lymphadenitis; Lymphadenopathy; Malabsorption; Mediastinal lymphadenopathy; Negative nitroblue tetrazolium reduction test; Osteomyelitis; Otitis media; Pyloric stenosis; Rectal abscess; Recurrent Aspergillus infections; Recurrent bacterial skin infections; Recurrent Burkholderia cepacia infections; Recurrent E. coli infections; Recurrent Klebsiella infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent Serratia marcescens infections; Recurrent Staphylococcus aureus infections; Sinusitis; Splenomegaly; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
NCF422q12.399.91%gene with protein product601488Abnormality of neutrophils; Autosomal recessive inheritance; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Diarrhea; Fever; Hepatomegaly; Hypermelanotic macule; Malabsorption; Mediastinal lymphadenopathy; Otitis media; Perioral eczema; Pyloric stenosis; Recurrent aphthous stomatitis; Recurrent respiratory infections; Recurrent sinusitis; Sinusitis; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease
NHP25q35.3100%gene with protein product606470NOLA2Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cirrhosis; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Growth delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticulated skin pigmentation; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Testicular atrophy; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NOP1015q14100%gene with protein product606471NOLA3Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
PARN16p13.1299.86%gene with protein product604212Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of skin pigmentation; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Infantile onset; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
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
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
RTEL120q13.3399.99%gene with protein product608833C20orf41Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Decreased antibody level in blood; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Postnatal growth retardation; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SMARCAL12q35100%gene with protein product606622Abnormal immunoglobulin level; Abnormal T cell morphology; Abnormality of epiphysis morphology; Anemia; Arteriosclerosis; Astigmatism; Autosomal recessive inheritance; Bulbous nose; Cellular immunodeficiency; Coarse hair; Depressed nasal bridge; Disproportionate short-trunk short stature; Fine hair; Focal segmental glomerulosclerosis; Glomerulopathy; High pitched voice; Hip dislocation; Hyperlordosis; Hypermelanotic macule; Hypertension; Hypoplasia of the capital femoral epiphysis; Increased thyroid-stimulating hormone level; Intrauterine growth retardation; Lateral displacement of the femoral head; Lumbar hyperlordosis; Lymphopenia; Melanocytic nevus; Microdontia; Motor delay; Multiple cafe-au-lait spots; Myopia; Nephrotic syndrome; Neutropenia; Opacification of the corneal stroma; Osteopenia; Ovoid vertebral bodies; Platyspondyly; Proteinuria; Protuberant abdomen; Recurrent infections; Renal insufficiency; Shallow acetabular fossae; Short neck; Spondyloepiphyseal dysplasia; Thoracic kyphosis; Thrombocytopenia; Transient ischemic attack; Waddling gaitNephrotic Syndrome
ST3GAL52p11.2100%gene with protein product604402SIAT9Absent speech; Autosomal recessive inheritance; Choreoathetosis; Cortical visual impairment; Developmental regression; Developmental stagnation at onset of seizures; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hypermelanotic macule; Hyporeflexia of upper limbs; Irritability; Lower limb hyperreflexia; Myoclonus; Optic atrophy; Status epilepticus; Visual loss; Vomiting
STK1119p13.3100%gene with protein product602216Abdominal pain; Abnormal pigmentation of the oral mucosa; Abnormality of metabolism/homeostasis; Abnormality of the mouth; Abnormality of the ureter; Autosomal dominant inheritance; Biliary tract abnormality; Breast carcinoma; Clubbing of fingers; Cryptorchidism; Gastrointestinal carcinoma; Gastrointestinal hemorrhage; Gonadal dysgenesis; Gynecomastia; Hamartomatous polyposis; Hypermelanotic macule; Increased level of L-fucose in urine; Intestinal bleeding; Intussusception; Iron deficiency anemia; Multiple lentigines; Nasal polyposis; Neoplasm of the pancreas; Ovarian cyst; Precocious puberty with Sertoli cell tumor; Rectal prolapse; Somatic mutation; Sporadic; Teratoma
TERC3q26.2100%RNA, miscRNA gene specifically targeted for capture602322Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cirrhosis; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Exertional dyspnea; Gastroesophageal reflux; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Interstitial pneumonitis; Intrauterine growth retardation; Lymphopenia; Malabsorption; Myelodysplasia; Nail dystrophy; Nail pits; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticular pattern on pulmonary HRCT; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Specific learning disability; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
TERT5p15.33100%gene with protein product187270Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the lymphatic system; Abnormality of the pharynx; Alopecia; Alveolar cell carcinoma; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Clubbing of fingers; Cough; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Freckling; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Increased antibody level in blood; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Lymphopenia; Malabsorption; Melanoma; Microcephaly; Myelodysplasia; Nail dystrophy; Nail pits; Nevus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pneumonia; Premature graying of hair; Premature loss of teeth; Pulmonary arterial hypertension; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticular pattern on pulmonary HRCT; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
TINF214q12100%gene with protein product604319Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of metabolism/homeostasis; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Cirrhosis; Cryptorchidism; Delayed speech and language development; Dermal atrophy; Dry skin; Epiphora; Esophageal stenosis; Excessive wrinkled skin; Exudative retinopathy; Failure to thrive; Fine hair; Fine, reticulate skin pigmentation; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hearing impairment; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Leukocoria; Leukopenia; Lymphopenia; Malabsorption; Megalocornea; Microcephaly; Myelodysplasia; Nail dysplasia; Nail dystrophy; Nail pits; Nystagmus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Progressive neurologic deterioration; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticulated skin pigmentation; Retinopathy; Ridged fingernail; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Sporadic; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
USB116q21100%gene with protein product613276C16orf57Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Blepharitis; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Conjunctivitis; Esophageal stenosis; Global developmental delay; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Intrauterine growth retardation; Malabsorption; Nail dystrophy; Neutropenia; Oral leukoplakia; Periodontitis; Poikiloderma; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Splenomegaly; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
WRAP5317p13.1100%gene with protein product612661WDR79Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of skin pigmentation; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Esophageal stenosis; Global developmental delay; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Intrauterine growth retardation; Malabsorption; Nail dysplasia; Nail dystrophy; Oral leukoplakia; Pancytopenia; Periodontitis; Recurrent fractures; Recurrent respiratory infections; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Squamous cell carcinoma; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
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-AlportAlport Syndrome
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-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome