XomeDxSlice Tool

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Phenotypes
Conjunctivitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
BTD3p25.1100%gene with protein product609019Alopecia; Apnea; Ataxia; Autosomal recessive inheritance; Conjunctivitis; Desquamation of skin soon after birth; Diarrhea; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperammonemia; Keratoconjunctivitis; Lethargy; Metabolic ketoacidosis; Muscular hypotonia; Optic atrophy; Organic aciduria; Perioral eczema; Recurrent skin infections; Seborrheic dermatitis; Seizures; Sensorineural hearing impairment; Skin rash; Splenomegaly; Tachypnea; Visual loss; Vomiting
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
CD1916p11.2100%gene with protein product107265Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CD1916p11.2100%gene with protein product107265Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CD79A19q13.299.5%gene with protein product112205IGAAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
CR21q32.2100%gene with protein product120650Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Disorders of Sex Development
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
DNASE1L33p14.3100%gene with protein product602244Abdominal pain; Angioedema; Arthritis; Autoimmunity; Autosomal recessive inheritance; Complement deficiency; Conjunctivitis; Cough; Dyspnea; Episcleritis; Glomerulopathy; Hematuria; Hemoptysis; Irregular hyperpigmentation; Nausea and vomiting; Nephritis; Proteinuria; Pruritus; Renal insufficiency; Skin rash; Small vessel vasculitis; Systemic lupus erythematosus; Uveitis
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
ERF19q13.2100%gene with protein product611888Abnormal facial shape; Abnormal form of the vertebral bodies; Anteverted nares; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Bronchomalacia; Cerebellar hypoplasia; Cognitive impairment; Conductive hearing impairment; Conjunctivitis; Convex nasal ridge; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; External ear malformation; Finger syndactyly; Flat occiput; Frontal bossing; High forehead; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Interstitial pulmonary abnormality; Lambdoidal craniosynostosis; Limitation of joint mobility; Low-set, posteriorly rotated ears; Malar flattening; Midface retrusion; Multiple suture craniosynostosis; Muscular hypotonia; Plagiocephaly; Polyhydramnios; Posterior plagiocephaly; Prominent forehead; Proptosis; Ptosis; Recurrent respiratory infections; Retrognathia; Short columella; Skeletal dysplasia; Stomatocytosis; Strabismus; Thick vermilion border; Tracheomalacia; TurricephalyBone Marrow Failure Syndromes
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FOXC216q24.1100%gene with protein product602402FKHL14Abnormality of the musculature; Arrhythmia; Autosomal dominant inheritance; Cataract; Conjunctivitis; Corneal erosion; Corneal ulceration; Distichiasis; Ectropion; Lymphedema; Muscle weakness; Patent ductus arteriosus; Photophobia; Predominantly lower limb lymphedema; Ptosis; Recurrent corneal erosions; Tetralogy of Fallot; Varicose veins; Ventricular septal defect
FOXC216q24.1100%gene with protein product602402FKHL14Abnormality of the musculature; Arrhythmia; Autosomal dominant inheritance; Cataract; Conjunctivitis; Corneal erosion; Corneal ulceration; Distichiasis; Ectropion; Lymphedema; Muscle weakness; Patent ductus arteriosus; Photophobia; Predominantly lower limb lymphedema; Ptosis; Recurrent corneal erosions; Tetralogy of Fallot; Varicose veins; Ventricular septal defect
GJB613q12.11100%gene with protein product604418DFNA3, ED2Abnormality of nail color; Abnormality of the dentition; Abnormality of the eyelashes; Absent axillary hair; Absent pubic hair; Adult onset sensorineural hearing impairment; Alopecia; Alopecia totalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Brittle hair; Cataract; Conductive hearing impairment; Conjunctivitis; Corneal neovascularization; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Erythema; Fine hair; Fragile nails; Furrowed tongue; Generalized hyperkeratosis; Generalized hyperpigmentation; Hearing impairment; Hyperconvex nail; Hyperpigmentation of the skin; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Hypotrichosis; Ichthyosis; Irregular hyperpigmentation; Keratitis; Macule; Nail dysplasia; Nail dystrophy; Onycholysis; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Photophobia; Progressive sensorineural hearing impairment; Recurrent bacterial skin infections; Sensorineural hearing impairment; Short stature; Skin ulcer; Slow-growing hair; Small nail; Sparse and thin eyebrow; Sparse axillary hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Stapes ankylosis; Strabismus; Thick nail; Variable expressivity; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ICOS2q33.2100%gene with protein product604558Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
ICOS2q33.2100%gene with protein product604558Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGLL122q11.23100%gene with protein product146770IGLLAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Meningitis; Osteomyelitis; Recurrent bacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
LRBA4q31.399.84%gene with protein product606453CDC4LArthritis; Asthma; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Bronchiectasis; Chronic diarrhea; Chronic lung disease; Clubbing of fingers; Colitis; Conjunctivitis; Failure to thrive; Gastritis; Growth delay; Hypothyroidism; IgA deficiency; IgM deficiency; Immunodeficiency; Lymphadenopathy; Pneumonia; Progressive; Recurrent otitis media; Recurrent sinusitis; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
LRRC8A9q34.11100%gene with protein product608360LRRC8Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Epicanthus; Failure to thrive; Fatigue; Fever; High palate; Hypertelorism; Immunodeficiency; Low-set ears; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PLG6q26100%gene with protein product173350Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the larynx; Abnormality of the skin; Abnormality of vision; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chronic irritative conjunctivitis; Conjunctivitis; Dandy-Walker malformation; Decreased level of plasminogen; Duodenal ulcer; Epiphora; Gastrointestinal inflammation; Gingival overgrowth; Gingivitis; Global developmental delay; Hydrocephalus; Infantile onset; Keratoconjunctivitis; Macrocephaly; Nephrolithiasis; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent upper respiratory tract infections; Stomatitis
POLH6p21.199.98%gene with protein product603968Autosomal recessive inheritance; Basal cell carcinoma; Conjunctivitis; Cutaneous melanoma; Cutaneous photosensitivity; Dermal atrophy; Dry skin; Ectropion; Entropion; Freckles in sun-exposed areas; Hypopigmentation of the skin; Keratitis; Melanoma; Photophobia; Poikiloderma; Squamous cell carcinoma; Telangiectasia
PSMB86p21.3299.84%gene with protein product177046LMP7Abnormality of the Leydig cells; Abnormally large globe; Adipose tissue loss; Arthralgia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Basal ganglia calcification; Bone pain; Camptodactyly of finger; Cardiomegaly; Clubbing of fingers; Clubbing of toes; Congestive heart failure; Conjunctivitis; Elbow flexion contracture; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Episcleritis; Episodic fever; Erythema; Erythema nodosum; Failure to thrive; Finger swelling; Flexion contracture of toe; Hepatomegaly; Hyperhidrosis; Hyperostosis; Hyperpigmentation of the skin; Hypertriglyceridemia; Increased antibody level in blood; Intellectual disability, mild; Joint stiffness; Lipoatrophy; Lipodystrophy; Long fingers; Lymphadenopathy; Macroglossia; Macrotia; Microcytic anemia; Muscle weakness; Osteopenia; Panniculitis; Prominent nose; Skeletal muscle atrophy; Skin rash; Splenomegaly; Subcutaneous nodule; Thick lower lip vermilion
RAG111p12100%gene with protein product179615Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Interstitial pneumonitis; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Sepsis; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RAG211p13100%gene with protein product179616Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
SAMD97q21.2100%gene with protein product610456C7orf5Abnormality of the skin; Adrenal insufficiency; Aspiration pneumonia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcinosis; Chronic diarrhea; Conjunctivitis; Cryptorchidism; Decreased body weight; Decreased testicular size; Gastroesophageal reflux; Gingivitis; Global developmental delay; Hypergonadotropic hypogonadism; Hyperkalemia; Hypoglycemia; Hyponatremia; Hypospadias; Intrauterine growth retardation; Microphallus; Motor delay; Overlapping fingers; Patent ductus arteriosus; Petechiae; Radial club hand; Recurrent bacterial infections; Recurrent urinary tract infections; Rocker bottom foot; Scoliosis; Sepsis; Short stature; Talipes equinovarusAplastic Anemia ; Bone Marrow Failure Syndromes
SAT1Xp22.1199.89%gene with protein product313020SATBlepharitis; Conjunctivitis; Corneal dystrophy; Dry skin; Dystrophic fingernails; Ectropion; Facial erythema; Follicular hyperkeratosis; Folliculitis; Heterogeneous; Keratitis; Nail dysplasia; Palmoplantar keratoderma; Perifollicular fibrosis; Photophobia; Scarring alopecia of scalp; Sparse and thin eyebrow; Sparse eyelashes; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
TCF319p13.3100%gene with protein product147141Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; B lymphocytopenia; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rash
TNFRSF13B17p11.2100%gene with protein product604907Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent otitis media; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Primary Immunodeficiency
TNFRSF13C22q13.2100%gene with protein product606269Adult onset; Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Phenotypic variability; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
UROS10q26.2100%gene with protein product606938Abnormal blistering of the skin; Abnormal urinary color; Abnormality of the foot; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the mouth; Absent eyebrow; Alopecia; Atypical scarring of skin; Autosomal recessive inheritance; Cholelithiasis; Congenital onset; Conjunctivitis; Corneal scarring; Cutaneous photosensitivity; Hemolytic anemia; Hyperpigmentation of the skin; Hypertrichosis; Hypopigmentation of the skin; Immunodeficiency; Joint contracture of the hand; Loss of eyelashes; Osteolysis; Osteopenia; Pathologic fracture; Recurrent fractures; Recurrent skin infections; Scleroderma; Short stature; Splenomegaly; Thickened skin; Thrombocytopenia; Vertebral compression fractures
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
XPA9q22.33100%gene with protein product611153Abnormality of the dentition; Arthralgia; Ataxia; Autosomal recessive inheritance; Cataract; Choreoathetosis; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Mental deterioration; Microcephaly; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Spasticity; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
XPC3p25.1100%gene with protein product613208Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Childhood onset; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmentation of the skin; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome