XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Recurrent infections

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADNP20q13.13100%gene with protein product611386Autistic behavior; Autosomal dominant inheritance; Downslanted palpebral fissures; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Infantile onset; Intellectual disability; Joint laxity; Language impairment; Obesity; Obsessive-compulsive behavior; Prominent forehead; Ptosis; Recurrent infections; Short nose; Short stature; Small hand; Smooth philtrum; Stereotypy; Strabismus; Thin upper lip vermilion; Visual impairment; Wide nasal bridge
ALG13Xq2399.95%gene with protein product300776GLT28D1, CXorf45Abnormality of extrapyramidal motor function; Anteverted nares; Cerebral atrophy; Delayed myelination; Generalized hypotonia; Global developmental delay; Hepatomegaly; Horizontal nystagmus; Hypertelorism; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Low-set ears; Microcephaly; Optic atrophy; Poor eye contact; Recurrent infections; Seizures; Type I transferrin isoform profile; X-linked dominant inheritance; X-linked recessive inheritance
ANTXR24q21.21100%gene with protein product608041Abnormal diaphysis morphology; Abnormality of dental morphology; Abnormality of the adrenal glands; Abnormality of the hair; Abnormality of the skull; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Brachydactyly; Camptodactyly of finger; Chronic diarrhea; Coarse facial features; Death in infancy; Diarrhea; Failure to thrive; Feeding difficulties; Gingival fibromatosis; Gingival overgrowth; Hyperpigmentation of the skin; Immunodeficiency; Joint stiffness; Lymphedema; Macrocephaly; Micromelia; Muscular hypotonia; Osteolysis; Osteomalacia; Osteopenia; Osteoporosis; Papule; Polycystic ovaries; Progressive; Progressive flexion contractures; Recurrent bacterial infections; Recurrent fractures; Recurrent infections; Severe short stature; Short neck; Short palm; Skin ulcer; Steatorrhea; Subcutaneous nodule; Telangiectasia of the skin; Thickened skin; Urticaria; Variable expressivity
BCL101p22.3100%gene with protein product603517Anemia; Autosomal recessive inheritance; B-cell lymphoma; Constipation; Decreased antibody level in blood; Encephalitis; Fatigue; Fever; Gastric lymphoma; Hyperhidrosis; Immunodeficiency; Infantile onset; Nausea and vomiting; Pulmonary infiltrates; Recurrent infections; Seizures; Weight loss
C1QA1p36.12100%gene with protein product120550Autosomal recessive inheritance; Decreased serum complement factor I; Recurrent infections
C1QB1p36.12100%gene with protein product120570Autosomal recessive inheritance; Decreased serum complement factor I; Recurrent infections
C1QC1p36.12100%gene with protein product120575C1QGAutosomal recessive inheritance; Decreased serum complement factor I; Recurrent infections
C59q33.299.87%gene with protein product120900Autosomal recessive inheritance; Complement deficiency; Generalized seborrheic dermatitis; Intractable diarrhea; Recurrent infections; Recurrent meningitisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Fanconi Anemia ; Inflammatory Bowel Disease ; Obesity
CACNA1C12p13.3399.98%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 114205CCHL1A1, CACNL1A1Atrial fibrillation; Autosomal dominant inheritance; Cutaneous syndactyly; Depressed nasal bridge; Global developmental delay; J wave; Microdontia; Prolonged QT interval; Recurrent infections; Round face; Shortened QT interval; Sudden cardiac death; Sudden death; Syncope; Thin upper lip vermilion; Ventricular arrhythmiaAutoimmune Disorders
CARD117p22.2100%gene with protein product607210Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased antibody level in blood; Hepatomegaly; IgM deficiency; Immunodeficiency; Infantile onset; Pneumonia; Recurrent infections; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Bone Marrow Failure Syndromes
CARD117p22.2100%gene with protein product607210Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased antibody level in blood; Hepatomegaly; IgM deficiency; Immunodeficiency; Infantile onset; Pneumonia; Recurrent infections; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Bone Marrow Failure Syndromes
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
CEBPE14q11.2100%gene with protein product600749Absent neutrophil specific granules; Autosomal recessive inheritance; Hyposegmentation of neutrophil nuclei; Recurrent infections
CRIPT2p2199.92%gene with protein product604594Anemia; Anisopoikilocytosis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Depressed nasal bridge; Frontal bossing; High forehead; Profound global developmental delay; Proptosis; Recurrent infections; Short digit; Short distal phalanx of finger; Sparse and thin eyebrow; Spotty hypopigmentation; Talipes; Talipes equinovarus; Telecanthus
CSF3R1p34.3100%gene with protein product138971CD114Autosomal dominant inheritance; Autosomal recessive inheritance; Elevated leukocyte alkaline phosphatase; Hepatosplenomegaly; Myelodysplasia; Neutropenia; Neutrophilia; Recurrent infections; Thickened calvariaAplastic Anemia ; Bone Marrow Failure Syndromes
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
DGCR222q11.21100%gene with protein product600594Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DGCR622q11.21100%gene with protein product601279Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DGCR822q11.21100%gene with protein product609030C22orf12Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DNAJC215p13.299.87%gene with protein product617048Abnormality of skin pigmentation; Abnormality of the metaphysis; Anemia; Autosomal recessive inheritance; Bone marrow hypocellularity; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperkeratosis; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Malabsorption; Neutropenia; Osteopenia; Pancytopenia; Recurrent infections; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
EFL115q25.2100%gene with protein productFormer name = ETUD1617538EFTUD1Abnormality of the metaphysis; Anemia; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Ichthyosis; Intellectual disability; Malabsorption; Neutropenia; Osteopenia; Recurrent infections; Short stature; Thrombocytopenia
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
ESS222q11.21100%gene with protein product601755DGCR13, DGCR14Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
EXTL38p21.1100%gene with protein product605744Autosomal recessive inheritance; Brachydactyly; Broad nasal tip; Coarse facial features; Coxa valga; Decreased antibody level in blood; Delayed ossification of carpal bones; Depressed nasal bridge; Dislocated radial head; Disproportionate short stature; Eosinophilia; Epiphyseal dysplasia; Full cheeks; Hypoplasia of the capital femoral epiphysis; Intellectual disability; Kyphoscoliosis; Metaphyseal dysplasia; Motor delay; Narrow greater sacrosciatic notches; Platyspondyly; Prominent nose; Recurrent infections; Single transverse palmar crease
FADD11q13.3100%gene with protein product602457Autosomal recessive inheritance; Cerebral atrophy; Decreased liver function; Encephalopathy; Hepatic fibrosis; Pulmonary artery atresia; Recurrent infections; Seizures; Ventricular septal defectAutoimmune Disorders
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
HELLS10q23.3397.82%gene with protein product603946Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Autosomal recessive inheritance; Cellular immunodeficiency; Communicating hydrocephalus; Congenital onset; Decreased antibody level in blood; Depressed nasal bridge; Epicanthus; Global developmental delay; Hypertelorism; Intellectual disability; Lymphopenia; Macrocephaly; Malabsorption; Micrognathia; Recurrent infections; Recurrent respiratory infections; Short stature
HLA-DQB16p21.3290.9%gene with protein productXomeDxSlice is not appropriate.604305HLA-DQBAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Achalasia; Autoimmunity; Cataplexy; Diabetes mellitus; Eczema; Erythema; Excessive daytime sleepiness; Excessive daytime somnolence; Hallucinations; Insomnia; Macule; Psoriasiform dermatitis; Recurrent infections; Transient global amnesia; Urticaria; Weight loss
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
IKBKGXq2825.01%gene with protein productLow coverage on XomeDxSlice due to pseudogene. Please see our test menu for analysis of IKBKG with alternate methods: http://www.genedx.com/test-catalog/disorders/incontinentia-pigmenti-ip/300248IP2, IP1, NEMOAbnormal blistering of the skin; Abnormal hand morphology; Abnormality of dental morphology; Abnormality of skin pigmentation; Alopecia; Asymmetric growth; Atrophic, patchy alopecia; Attention deficit hyperactivity disorder; Breast aplasia; Breast hypoplasia; Camptodactyly of finger; Cataract; Coarse hair; Conical incisor; Corneal opacity; Delayed eruption of teeth; Deviation of finger; Dry skin; Dysgammaglobulinemia; Ectodermal dysplasia; Eosinophilia; Erythema; Fine hair; Frontal bossing; Gait disturbance; Hearing abnormality; Hemivertebrae; Hyperhidrosis; Hyperkeratosis; Hypodontia; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic fingernail; Hypoplastic nipples; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired memory B cell generation; Increased IgM level; Intellectual disability; Irregular hyperpigmentation; Keratitis; Kyphoscoliosis; Lymphedema; Microcephaly; Microphthalmia; Nail dysplasia; Nail dystrophy; Nail pits; Optic atrophy; Oral cleft; Osteolysis; Osteopetrosis; Recurrent bacterial infections; Recurrent infections; Recurrent mycobacterium avium complex infections; Recurrent streptococcus pneumoniae infections; Retinal detachment; Retinal hemorrhage; Retinal vascular proliferation; Ridged nail; Scarring; Scoliosis; Seizures; Short stature; Skin rash; Skin ulcer; Sparse hair; Spasticity; Strabismus; Supernumerary nipple; Supernumerary ribs; Telangiectasia of the skin; Thick nail; Uveitis; Verrucae; Visual impairment; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
IKBKGXq2825.01%gene with protein productLow coverage on XomeDxSlice due to pseudogene. Please see our test menu for analysis of IKBKG with alternate methods: http://www.genedx.com/test-catalog/disorders/incontinentia-pigmenti-ip/300248IP2, IP1, NEMOAbnormal blistering of the skin; Abnormal hand morphology; Abnormality of dental morphology; Abnormality of skin pigmentation; Alopecia; Asymmetric growth; Atrophic, patchy alopecia; Attention deficit hyperactivity disorder; Breast aplasia; Breast hypoplasia; Camptodactyly of finger; Cataract; Coarse hair; Conical incisor; Corneal opacity; Delayed eruption of teeth; Deviation of finger; Dry skin; Dysgammaglobulinemia; Ectodermal dysplasia; Eosinophilia; Erythema; Fine hair; Frontal bossing; Gait disturbance; Hearing abnormality; Hemivertebrae; Hyperhidrosis; Hyperkeratosis; Hypodontia; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic fingernail; Hypoplastic nipples; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired memory B cell generation; Increased IgM level; Intellectual disability; Irregular hyperpigmentation; Keratitis; Kyphoscoliosis; Lymphedema; Microcephaly; Microphthalmia; Nail dysplasia; Nail dystrophy; Nail pits; Optic atrophy; Oral cleft; Osteolysis; Osteopetrosis; Recurrent bacterial infections; Recurrent infections; Recurrent mycobacterium avium complex infections; Recurrent streptococcus pneumoniae infections; Retinal detachment; Retinal hemorrhage; Retinal vascular proliferation; Ridged nail; Scarring; Scoliosis; Seizures; Short stature; Skin rash; Skin ulcer; Sparse hair; Spasticity; Strabismus; Supernumerary nipple; Supernumerary ribs; Telangiectasia of the skin; Thick nail; Uveitis; Verrucae; Visual impairment; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
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
IRF816q24.1100%gene with protein product601565ICSBP1Abnormality of immune system physiology; Autosomal dominant inheritance; Autosomal recessive inheritance; Failure to thrive; Fever; Immunodeficiency; Infantile onset; Lymphadenopathy; Recurrent infections
IRF816q24.1100%gene with protein product601565ICSBP1Abnormality of immune system physiology; Autosomal dominant inheritance; Autosomal recessive inheritance; Failure to thrive; Fever; Immunodeficiency; Infantile onset; Lymphadenopathy; Recurrent infections
ITK5q33.3100%gene with protein product186973Anemia; Autoimmunity; Autosomal recessive inheritance; Elevated erythrocyte sedimentation rate; Hepatomegaly; IgG deficiency; Juvenile onset; Lymphadenopathy; Lymphoma; Pancytopenia; Recurrent aphthous stomatitis; Recurrent infections; Splenomegaly; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
KDM6AXp11.399.9%gene with protein product300128UTXAbnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the breast; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Behavioral abnormality; Blue sclerae; Broad nasal tip; Butterfly vertebrae; Cafe-au-lait spot; Central hypotonia; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Decreased body weight; Dental malocclusion; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Neonatal hypoglycemia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth; X-linked dominant inheritance
KMT2D12q13.12100%gene with protein product602113TNRC21, MLL2Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Blue sclerae; Butterfly vertebrae; Cafe-au-lait spot; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
MANBA4q2499.94%gene with protein product609489Abnormal facial shape; Abnormality of metabolism/homeostasis; Aggressive behavior; Angiokeratoma; Autosomal recessive inheritance; Generalized hypotonia; Hearing impairment; Hyperactivity; Hypoplasia of the abdominal wall musculature; Increased urinary disaccharide excretion; Intellectual disability; Muscular hypotonia; Neurological speech impairment; Recurrent infections; Recurrent respiratory infections; Seizures; Tortuosity of conjunctival vessels
MC2R18p11.2100%gene with protein product607397Accelerated skeletal maturation; Autosomal recessive inheritance; Coma; Decreased circulating cortisol level; Failure to thrive; Hyperpigmentation of the skin; Increased circulating ACTH level; Recurrent hypoglycemia; Recurrent infections; Seizures; Tall stature
MED13L12q24.21100%gene with protein product608771THRAP2Ataxia; Autism; Autosomal dominant inheritance; Brachycephaly; Bulbous nose; Clinodactyly; Coloboma; Cryptorchidism; Depressed nasal bridge; Dysarthria; Everted lower lip vermilion; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypertelorism; Incomplete penetrance; Infantile onset; Intellectual disability, moderate; Low-set ears; Macroglossia; Macrotia; Motor delay; Narrow forehead; Open mouth; Patent foramen ovale; Plagiocephaly; Poor speech; Prominent forehead; Recurrent infections; Round face; Short neck; Strabismus; Transposition of the great arteries; Triangular face; Upslanted palpebral fissure; Wide mouth
MGME120p11.23100%gene with protein product615076C20orf72Autosomal recessive inheritance; Dysphonia; Dyspnea; Easy fatigability; Elevated serum creatine phosphokinase; Exercise intolerance; Facial palsy; Generalized amyotrophy; Hypergonadotropic hypogonadism; Hyporeflexia; Kyphosis; Nasal speech; Progressive; Progressive external ophthalmoplegia; Proximal amyotrophy; Ptosis; Recurrent infections; Respiratory insufficiency; Spinal deformities; Spinal rigidity
NAA10Xq2899.97%gene with protein product300013ARD1, ARD1AAbnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the nares; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Atrial septal defect; Bicuspid aortic valve; Blindness; Broad hallux; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Complete duplication of thumb phalanx; Congenital onset; Cryptorchidism; Deep philtrum; Delayed cranial suture closure; Dental crowding; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Everted upper lip vermilion; External ear malformation; Facial wrinkling; Finger syndactyly; Generalized hypotonia; Glaucoma; Global developmental delay; Growth delay; Hearing impairment; High palate; High, narrow palate; Hydronephrosis; Hydroureter; Hypertonia; Hypospadias; Inguinal hernia; Intellectual disability; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Microcephaly; Microcornea; Microphthalmia; Microretrognathia; Minimal subcutaneous fat; Motor delay; Narrow chest; Optic nerve coloboma; Oral cleft; Overfolded helix; Pectus excavatum; Postnatal growth retardation; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pyloric stenosis; Radial deviation of finger; Rectal prolapse; Recurrent infections; Recurrent otitis media; Redundant skin; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Short clavicles; Short columella; Short stature; Sparse and thin eyebrow; Spastic diplegia; Stereotypy; Supraventricular tachycardia; Syndactyly; Thick upper lip vermilion; Thin upper lip vermilion; Torsade de pointes; Underdeveloped nasal alae; Variable expressivity; Ventricular extrasystoles; Ventricular septal defect; Ventricular tachycardia; Webbed neck; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
NPHS119q13.12100%gene with protein product602716Abdominal distention; Abnormality of the renal tubule; Autosomal recessive inheritance; Congenital nephrotic syndrome; Congenital onset; Delayed eruption of permanent teeth; Diffuse mesangial sclerosis; Edema; Elevated amniotic fluid alpha-fetoprotein; Gastroesophageal reflux; Growth delay; Hyperlipidemia; Hypoalbuminemia; Hypoproteinemia; Hypothyroidism; Neonatal respiratory distress; Nephrotic syndrome; Proteinuria; Pyloric stenosis; Rapidly progressive; Recurrent infections; Renal insufficiency; Small for gestational age; Tubular atrophyNephrotic Syndrome
NSUN25p15.31100%gene with protein product610916MRT5Abnormality of female external genitalia; Abnormality of the antihelix; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blepharophimosis; Broad thumb; Clinodactyly of the 5th finger; Cryptorchidism; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dysarthria; Eczema; Epicanthus; Fine hair; Global developmental delay; Hearing impairment; Hyperreflexia; Hypertelorism; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Long face; Low anterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Short chin; Short foot; Short philtrum; Short stature; Sloping forehead; Small for gestational age; Small hand; Smooth philtrum; Sparse lateral eyebrow; Sparse scalp hair; Spasticity; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thick eyebrow; Thick upper lip vermilion; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide anterior fontanel
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
ORAI112q24.3199.36%gene with protein product610277TMEM142AAbnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Anemia; Areflexia of lower limbs; Asplenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty walking; Ectodermal dysplasia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Failure to thrive; Fatiguable weakness of proximal limb muscles; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Gowers sign; Heat intolerance; High forehead; Hypocalcemia; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscular hypotonia; Myalgia; Myopathy; Neurological speech impairment; Proximal muscle weakness; Purpura; Recurrent aphthous stomatitis; Recurrent infections; Respiratory insufficiency due to muscle weakness; Short stature; Slow progression; Spinal rigidityAutoimmune Disorders ; Ectodermal Dysplasia
PLCG216q24.199.99%gene with protein product600220Allergic rhinitis; Arthralgia; Autosomal dominant inheritance; Bronchiolitis; Cellulitis; Erythema; Hashimoto thyroiditis; IgA deficiency; IgM deficiency; Immune dysregulation; Infantile onset; Interstitial pneumonitis; Recurrent infections; Urticaria; VitiligoAutoimmune Disorders ; Inflammatory Bowel Disease
PLCG216q24.199.99%gene with protein product600220Allergic rhinitis; Arthralgia; Autosomal dominant inheritance; Bronchiolitis; Cellulitis; Erythema; Hashimoto thyroiditis; IgA deficiency; IgM deficiency; Immune dysregulation; Infantile onset; Interstitial pneumonitis; Recurrent infections; Urticaria; VitiligoAutoimmune Disorders ; Inflammatory Bowel Disease
PRKCD3p21.1100%gene with protein product176977Anal atresia; Arthralgia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; Immunodeficiency; Infantile onset; Lymphadenopathy; Lymphopenia; Membranous nephropathy; Nephrotic syndrome; Pneumonia; Purpura; Recurrent bronchitis; Recurrent infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
PRPS1Xq22.399.96%gene with protein product311850DFN2Abnormal nerve conduction velocity; Absent speech; Areflexia; Areflexia of lower limbs; Ataxia; Childhood onset; Death in infancy; Decreased nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Drooling; Dysphagia; Gait disturbance; Generalized hypotonia; Global developmental delay; Gout; Growth delay; Hearing impairment; Hyperuricosuria; Immunodeficiency; Impaired pain sensation; Intellectual disability; Motor delay; Muscle mounding; Muscle weakness; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Onion bulb formation; Optic atrophy; Peripheral neuropathy; Pes cavus; Polyneuropathy; Progressive muscle weakness; Progressive visual loss; Recurrent infections; Recurrent upper respiratory tract infections; Renal insufficiency; Respiratory insufficiency; Segmental peripheral demyelination/remyelination; Seizures; Sensorineural hearing impairment; Sensory neuropathy; Skeletal muscle hypertrophy; Spinal cord posterior columns myelin loss; Tetraplegia; Uric acid nephrolithiasis; Variable expressivity; Visual impairment; Visual loss; X-linked recessive inheritance
RAP1A1p13.299.05%gene with protein product179520Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Butterfly vertebrae; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Hemivertebrae; High palate; Highly arched eyebrow; Hydrocephalus; Hypodontia; Joint hyperflexibility; Long eyelashes; Macrotia; Microcephaly; Microdontia; Muscular hypotonia; Protruding ear; Ptosis; Recurrent infections; Scoliosis; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse lateral eyebrow; Strabismus; Ventriculomegaly; Widely spaced teeth
RAP1B12q1595.98%gene with protein product179530Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Butterfly vertebrae; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Hemivertebrae; High palate; Highly arched eyebrow; Hydrocephalus; Hypodontia; Joint hyperflexibility; Long eyelashes; Macrotia; Microcephaly; Microdontia; Muscular hypotonia; Protruding ear; Ptosis; Recurrent infections; Scoliosis; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse lateral eyebrow; Strabismus; Ventriculomegaly; Widely spaced teeth
RNF113AXq24100%gene with protein product300951ZNF183Brittle hair; Cerebellar hypoplasia; Chronic diarrhea; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased antibody level in blood; Global brain atrophy; High forehead; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Mandibular prognathia; Microcephaly; Micropenis; Optic nerve hypoplasia; Progeroid facial appearance; Progressive microcephaly; Recurrent infections; Retinal dystrophy; Short stature; Slow-growing hair; Sparse hair; Wide mouth; Widely spaced primary teeth; X-linked dominant inheritancePalmoplantar keratoderma plus congenital ichthyosis
RPL10Xq28100%gene with protein product312173Abnormal facial shape; Ankle contracture; Branchial cyst; Camptodactyly; Cryptorchidism; Dental crowding; Finger syndactyly; Gastroesophageal reflux; Hypospadias; Knee flexion contracture; Laryngomalacia; Mandibular prognathia; Microcephaly; Muscular hypotonia; Protruding ear; Pulmonary artery stenosis; Recurrent infections; Sacral lipoma; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Single transverse palmar crease; Tapered finger; Thin upper lip vermilion
SBDS7q11.21100%gene with protein product607444Abnormality of the metaphysis; Acute myeloid leukemia; Anemia; Autosomal recessive inheritance; Coxa vara; Delayed skeletal maturation; Eczema; Elevated hepatic transaminases; Enlargement of the costochondral junction; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Ichthyosis; Intellectual disability; Intellectual disability, mild; Irregular ossification at anterior rib ends; Malabsorption; Metaphyseal chondrodysplasia; Metaphyseal sclerosis; Metaphyseal widening; Myelodysplasia; Myocardial necrosis; Narrow chest; Narrow sacroiliac notch; Neonatal respiratory distress; Nephrocalcinosis; Neutropenia; Osteopenia; Ovoid vertebral bodies; Pancytopenia; Persistence of hemoglobin F; Proximal femoral epiphysiolysis; Recurrent infections; Short stature; Small for gestational age; Specific learning disability; Steatorrhea; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SBDS7q11.21100%gene with protein product607444Abnormality of the metaphysis; Acute myeloid leukemia; Anemia; Autosomal recessive inheritance; Coxa vara; Delayed skeletal maturation; Eczema; Elevated hepatic transaminases; Enlargement of the costochondral junction; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Ichthyosis; Intellectual disability; Intellectual disability, mild; Irregular ossification at anterior rib ends; Malabsorption; Metaphyseal chondrodysplasia; Metaphyseal sclerosis; Metaphyseal widening; Myelodysplasia; Myocardial necrosis; Narrow chest; Narrow sacroiliac notch; Neonatal respiratory distress; Nephrocalcinosis; Neutropenia; Osteopenia; Ovoid vertebral bodies; Pancytopenia; Persistence of hemoglobin F; Proximal femoral epiphysiolysis; Recurrent infections; Short stature; Small for gestational age; Specific learning disability; Steatorrhea; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SERAC16q25.399.79%gene with protein product6147253-Methylglutaconic aciduria; Abnormality of extrapyramidal motor function; Abnormality of the coagulation cascade; Autosomal recessive inheritance; Brain atrophy; Cerebellar atrophy; Developmental regression; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperammonemia; Hypoglycemia; Increased serum lactate; Intellectual disability; Lactic acidosis; Neonatal sepsis; Recurrent infections; Sensorineural hearing impairment; Spasticity
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
SLC35A2Xp11.23100%gene with protein product314375UGALTCerebellar hypoplasia; Cerebral atrophy; Coarse facial features; Delayed myelination; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Microcephaly; Nystagmus; Open mouth; Recurrent infections; Rod-cone dystrophy; Seizures; Somatic mosaicism; Thick eyebrow; Thick vermilion border; Wide nasal bridge; X-linked dominant inheritance
SLC46A117q11.2100%gene with protein product611672Abnormality of movement; Anorexia; Ataxia; Athetosis; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Cheilitis; Decreased antibody level in blood; Diarrhea; Dyskinesia; Failure to thrive; Feeding difficulties in infancy; Folate-responsive megaloblastic anemia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glossitis; Infantile onset; Intellectual disability; Irritability; Leukopenia; Malabsorption; Megaloblastic anemia; Nausea and vomiting; Neutropenia; Oral ulcer; Pallor; Peripheral neuropathy; Recurrent infections; Seizures; Thrombocytopenia
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
SMARCE117q21.299.74%gene with protein product603111Abnormality of cardiovascular system morphology; Abnormality of the dentition; Absent speech; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Arachnodactyly; Atrial septal defect; Autosomal dominant inheritance; Cerebellar hypoplasia; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Dystrophic toenail; Elbow dislocation; Feeding difficulties; Feeding difficulties in infancy; Generalized hirsutism; Global developmental delay; Hearing impairment; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Microcephaly; Muscular hypotonia; Nystagmus; Ptosis; Recurrent infections; Recurrent respiratory infections; Sandal gap; Scoliosis; Seizures; Short distal phalanx of finger; Short philtrum; Short stature; Slow-growing hair; Sparse scalp hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thin upper lip vermilion; Wide mouth; Wide nasal bridge; Wide nose
SPINK55q32100%gene with protein product605010Abnormality of the musculature; Acanthosis nigricans; Allergic rhinitis; Angioedema; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital nonbullous ichthyosiform erythroderma; Decreased antibody level in blood; Eczema; Emphysema; Erythroderma; Failure to thrive; Fine hair; Global developmental delay; Hypernatremic dehydration; Increased IgE level; Intellectual disability; Irregular hyperpigmentation; Malabsorption; Recurrent infections; Recurrent respiratory infections; Seizures; Sparse and thin eyebrow; Sparse scalp hair; Trichorrhexis nodosa; Urticaria; Villous atrophyPalmoplantar keratoderma plus congenital ichthyosis
SRP5414q13.2100%gene with protein product604857Abnormality of the metaphysis; Anemia; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Ichthyosis; Intellectual disability; Malabsorption; Neutropenia; Osteopenia; Recurrent infections; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TF3q22.1100%gene with protein product190000Abnormality of the liver; Anemia; Atransferrinemia; Autosomal recessive inheritance; Congestive heart failure; Hypochromic anemia; Recurrent infectionsAlbinism ; Bardet-Biedl Syndrome ; Ectodermal Dysplasia ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis ; Waardenburg Syndrome
TRAC14q11.2T cell receptor geneXomeDxSlice is not appropriate.186880Autoimmunity; Autosomal recessive inheritance; Failure to thrive; Infantile onset; Lymphadenopathy; Recurrent infections
UROC13q21.3100%gene with protein product613012Abnormality of histidine metabolism; Action tremor; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Blue irides; Broad-based gait; Dysarthria; Fair hair; Gait ataxia; Gaze-evoked horizontal nystagmus; Hyperactive deep tendon reflexes; Intellectual disability, progressive; Intellectual disability, severe; Recurrent infections; Short stature; Tremor; Truncal ataxia; Urocanic aciduria
WIPF12q31.1100%gene with protein product602357WASPIPAbnormal platelet morphology; Abnormality of eosinophils; Autoimmunity; Autosomal recessive inheritance; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased proportion of CD8-positive T cells; Dyspnea; Eczema; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Inflammation of the large intestine; Lymphopenia; Microcytic anemia; Petechiae; Prolonged bleeding time; Recurrent infections; Recurrent respiratory infections; Reduced natural killer cell activity; Sinusitis; Specific learning disability; Spontaneous hematomas; ThrombocytopeniaBone Marrow Failure Syndromes


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