XomeDxSlice Tool

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

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Phenotypes
Edema

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTN419q13.299.99%gene with protein product604638FSGS1Anemia; Autosomal dominant inheritance; Edema; Focal segmental glomerulosclerosis; Hyperlipidemia; Hypertension; Hypoalbuminemia; Incomplete penetrance; Proteinuria; Slow progression; Variable expressivityNephrotic Syndrome
ADA20q13.12100%gene with protein product608958Abnormal lymphocyte morphology; Abnormality of pelvic girdle bone morphology; Absence of lymph node germinal center; Absent specific antibody response; Absent tonsils; Allergy; Alopecia; Anterior rib cupping; Anti-thyroid peroxidase antibody positivity; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Asthma; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; B lymphocytopenia; B-cell lymphoma; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Diffuse mesangial sclerosis; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; IgA deficiency; IgM deficiency; Immunoglobulin IgG2 deficiency; Increased IgE level; Inflammatory abnormality of the skin; Lack of T cell function; Lymphadenopathy; Platyspondyly; Pneumonia; Pruritus; Pulmonary insufficiency; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent otitis media; Recurrent pneumonia; Recurrent upper respiratory tract infections; Recurrent viral infections; Reduced red cell adenosine deaminase activity; Severe B lymphocytopenia; Severe combined immunodeficiency; Sinusitis; Somatic mosaicism; Splenomegaly; Thickened skinAutoimmune Disorders ; Common Variable Immune Deficiency ; Hemolytic Anemia ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
APOA111q23.3100%gene with protein product107680Abnormality of the liver; Anemia; Autosomal dominant inheritance; Blurred vision; Cholestasis; Corneal opacity; Decreased circulating high-density lipoprotein levels; Edema; EMG abnormality; Generalized amyloid deposition; Hematuria; Hemiplegia/hemiparesis; Hepatomegaly; Hypertension; Lymphadenopathy; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenomegaly; Xanthomatosis
APOE19q13.32100%gene with protein productSusceptibility alleles will not be reported.107741AD2Abnormality of the eye; Absent axillary hair; Alzheimer disease; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Cerebral amyloid angiopathy; Cirrhosis; Corneal arcus; Decreased circulating high-density lipoprotein levels; Dementia; Diabetes mellitus; Edema; Glomerulopathy; Hepatic steatosis; Hepatomegaly; Hypercholesterolemia; Hypertriglyceridemia; Increased circulating low-density lipoprotein levels; Late onset; Long-tract signs; Mediastinal lymphadenopathy; Mesangial hypercellularity; Middle age onset; Neurofibrillary tangles; Obesity; Parkinsonism; Petechiae; Proteinuria; Pulmonary infiltrates; Renal insufficiency; Sea-blue histiocytosis; Sleep-wake cycle disturbance; Splenomegaly; Subcutaneous nodule; Tendon xanthomatosis; Thrombocytopenia; Type IV atherosclerotic lesion; Xanthelasma
ARHGDIA17q25.3100%gene with protein product601925GDIA1Autosomal recessive inheritance; Chronic kidney disease; Cortical visual impairment; Diffuse mesangial sclerosis; Edema; Hypoalbuminemia; Intellectual disability; Neonatal onset; Nephrotic syndrome; Proteinuria; Rapidly progressive; Sensorineural hearing impairment; Thin glomerular basement membraneNephrotic Syndrome
B2M15q21.1100%gene with protein product109700Autonomic bladder dysfunction; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowel incontinence; Bronchiectasis; Cholestasis; Chronic constipation; Chronic diarrhea; Edema; Gastrointestinal dysmotility; Gastrointestinal hemorrhage; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Hypoalbuminemia; Hypoplasia of the ulna; Hypoproteinemia; IgG deficiency; Intermittent diarrhea; Keratoconjunctivitis sicca; Malabsorption; Nephropathy; Nephrotic syndrome; Orthostatic hypotension due to autonomic dysfunction; Proteinuria; Radial bowing; Recurrent respiratory infections; Skin rash; Splenomegaly; Variable expressivity; Vertigo; Weight loss; Xerostomia
BSND1p32.3100%gene with protein product606412DFNB73Autosomal recessive inheritance; Congenital onset; Decreased glomerular filtration rate; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Global glomerulosclerosis; Heterogeneous; Hydrops fetalis; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hyponatremia; Hyporeflexia; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Reduced renal corticomedullary differentiation; Renal insufficiency; Renal salt wasting; Sensorineural hearing impairment; Tubulointerstitial fibrosis
CCDC88A2p16.199.6%gene with protein product609736KIAA1212Abnormality of the hand; Autosomal recessive inheritance; Cerebellar atrophy; Developmental stagnation; Edema; Epicanthus; Feeding difficulties in infancy; Full cheeks; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile encephalopathy; Intellectual disability, profound; Myoclonus; Narrow forehead; Neuronal loss in central nervous system; Open mouth; Optic atrophy; Pachygyria; Peripheral dysmyelination; Polymicrogyria; Progressive microcephaly; Retrognathia; Seizures; Severe muscular hypotonia; Short nose; Tented upper lip vermilion; Undetectable visual evoked potentials
CD551q32.2100%gene with protein product125240DAFAbdominal pain; Abnormal intestine morphology; Ascites; Autosomal recessive inheritance; Budd-Chiari syndrome; Clubbing; Diarrhea; Edema; Growth delay; Hypoproteinemia; Iron deficiency anemiaInflammatory Bowel Disease
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
CHRNA12q31.1100%gene with protein product100690CHRNAAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Cystic hygroma; Decreased miniature endplate potentials; Decreased size of nerve terminals; Depressed nasal ridge; Dysarthria; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Fatigable weakness; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized muscle weakness; Gowers sign; High palate; Hypertelorism; Hypoplastic heart; Increased susceptibility to fractures; Infantile onset; Intermittent episodes of respiratory insufficiency due to muscle weakness; Intrauterine growth retardation; Joint dislocation; Low-set ears; Macrotia; Malignant hyperthermia; Micrognathia; Motor delay; Multiple pterygia; Neck muscle weakness; Neonatal hypotonia; Onset; Ophthalmoparesis; Ophthalmoplegia; Polyhydramnios; Poor suck; Prolonged miniature endplate currents; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency due to muscle weakness; Scoliosis; Short finger; Thin ribs; Type 2 muscle fiber atrophy; Variable expressivity; Vertebral fusion; Weak cry
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRNG2q37.1100%gene with protein product100730ACHRGAbnormal cervical curvature; Abnormal facial shape; Abnormality of the foot; Abnormality of the neck; Absence of labia majora; Akinesia; Amyoplasia; Antecubital pterygium; Anterior clefting of vertebral bodies; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the skin; Arachnodactyly; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Axillary pterygia; Bilateral camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cleft palate; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal ridge; Diaphragmatic eventration; Dislocated radial head; Downslanted palpebral fissures; Downturned corners of mouth; Dysplastic patella; Edema; Epicanthus; Exostosis of the external auditory canal; Facial asymmetry; Fetal akinesia sequence; Finger syndactyly; Flexion contracture; Fused cervical vertebrae; High palate; Hip dislocation; Hypertelorism; Hypogonadism; Hypoplastic heart; Hypoplastic nipples; Hypospadias; Increased susceptibility to fractures; Inguinal hernia; Intercrural pterygium; Intrauterine growth retardation; Joint dislocation; Kyphosis; Limitation of joint mobility; Long clavicles; Long face; Long philtrum; Low-set ears; Malignant hyperthermia; Microcephaly; Micrognathia; Multiple pterygia; Narrow mouth; Neck pterygia; Neonatal respiratory distress; Patellar aplasia; Pectus excavatum; Pointed chin; Polyhydramnios; Popliteal pterygium; Ptosis; Pulmonary hypoplasia; Rib fusion; Rocker bottom foot; Scoliosis; Short finger; Short stature; Symphalangism affecting the phalanges of the hand; Syndactyly; Talipes calcaneovalgus; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Vertebral fusion; Vertebral segmentation defect; Webbed neck
CLCNKA1p36.1399.96%gene with protein product602024Congenital onset; Decreased glomerular filtration rate; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Heterogeneous; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hyponatremia; Hyporeflexia; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Renal insufficiency; Renal salt wasting; Sensorineural hearing impairment
CLCNKB1p36.1399.98%gene with protein product602023Abnormal choroid morphology; Abnormal sclera morphology; Abnormality of the retinal vasculature; Autosomal recessive inheritance; Congenital onset; Decreased glomerular filtration rate; Dehydration; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Generalized muscle weakness; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hypokalemic metabolic alkalosis; Hyponatremia; Hyporeflexia; Hypotension; Impaired reabsorption of chloride; Increased circulating renin level; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Renal insufficiency; Renal potassium wasting; Renal salt wasting; Sensorineural hearing impairment
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COQ8B19q13.2100%gene with protein productFormer name = ADCK4615567ADCK4Autosomal recessive inheritance; Edema; Focal segmental glomerulosclerosis; Hypoalbuminemia; Nephrotic syndrome; Progressive; Proteinuria; Stage 5 chronic kidney diseaseNephrotic Syndrome
DCLRE1C10p13100%gene with protein product605988SCIDAAbnormal lymphocyte morphology; Absent tonsils; Alopecia; Anemia; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Genital ulcers; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; Lymph node hypoplasia; Lymphadenopathy; Oral ulcer; Otitis media; Panhypogammaglobulinemia; Phenotypic variability; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent upper respiratory tract infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaInflammatory Bowel Disease ; Primary Immunodeficiency
DIS3L22q37.199.98%gene with protein product614184FAM6AAbdominal pain; Abnormal facial shape; Abnormality of pancreas morphology; Agenesis of corpus callosum; Anteverted nares; Ascites; Autosomal recessive inheritance; Broad alveolar ridges; Congenital diaphragmatic hernia; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Distal ileal atresia; Edema; Epicanthus; Global developmental delay; Hepatomegaly; High forehead; High, narrow palate; Hyperinsulinemia; Hypoplasia of penis; Hypoplasia of the abdominal wall musculature; Intellectual disability; Interrupted aortic arch; Large for gestational age; Long upper lip; Low-set ears; Macrocephaly; Micrognathia; Muscular hypotonia; Nephroblastoma; Nephroblastomatosis; Nephrogenic rest; Open mouth; Pancreatic islet-cell hyperplasia; Polyhydramnios; Posteriorly rotated ears; Renal hamartoma; Retrognathia; Round face; Short nose; Smooth philtrum; Specific learning disability; Tall stature; Tented upper lip vermilion; Thickened helices; Visceromegaly; Volvulus; Wide nasal bridge
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
ERBB312q13.2100%gene with protein product190151LCCS2Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Decreased fetal movement; Degenerative vitreoretinopathy; Edema; High myopia; Hydronephrosis; Micrognathia; Polyhydramnios; Respiratory failure; Skeletal muscle atrophy
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
FECH18q21.31100%gene with protein product612386Abnormality of the heme biosynthetic pathway; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cholelithiasis; Cutaneous photosensitivity; Eczema; Edema; Erythema; Hemolytic anemia; Hepatic failure; Hypertriglyceridemia; Pruritus
FGA4q31.3100%gene with protein product134820Abnormal bleeding; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholestasis; Edema; Epistaxis; Gastrointestinal hemorrhage; Generalized amyloid deposition; Gingival bleeding; Hematuria; Hepatomegaly; Hypertension; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenic rupture; Splenomegaly; Spontaneous abortion; Venous thrombosis
GBE13p12.299.98%gene with protein product607839Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of metabolism/homeostasis; Abnormality of the cerebral white matter; Adult onset; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Cirrhosis; Cognitive impairment; Decreased fetal movement; Distal sensory impairment; Edema; Esophageal varix; Failure to thrive; Gait disturbance; Generalized hypotonia; Hemiparesis; Hepatic failure; Hepatosplenomegaly; Hydrops fetalis; Intellectual disability; Muscle weakness; Neurogenic bladder; Paresthesia; Peripheral axonal neuropathy; Polyhydramnios; Portal hypertension; Reduced tendon reflexes; Skeletal muscle atrophy; Skin ulcer; Slow progression; Spastic paraplegia; Spasticity; Tetraparesis; Tubulointerstitial fibrosis; Urinary bladder sphincter dysfunction; Urinary incontinenceRhabdomyolysis
GLE19q34.1199.99%gene with protein product603371GLE1L, LCCS1Abnormal anterior horn cell morphology; Abnormal cortical bone morphology; Abnormality of the amniotic fluid; Abnormality of the elbow; Abnormality of the hip bone; Abnormality of the ribs; Abnormality of the thorax; Amniotic constriction ring; Amyotrophic lateral sclerosis; Anxiety; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Depressivity; Dyspnea; Edema; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fetal akinesia sequence; Generalized muscle weakness; Hypertelorism; Hypoplasia of the musculature; Limitation of joint mobility; Low-set ears; Low-set, posteriorly rotated ears; Micrognathia; Muscle cramps; Neonatal death; Neurodegeneration; Pain; Paralysis; Paucity of anterior horn motor neurons; Polyhydramnios; Pulmonary hypoplasia; Recurrent fractures; Respiratory failure; Short neck; Short stature; Skeletal muscle atrophy; Slender long bone; Spasticity; Webbed neck; Widening of cervical spinal canal; Xerostomia
IL2RGXq13.199.93%gene with protein product308380SCIDX1, IMD4, CIDXAbnormal lymphocyte morphology; Agammaglobulinemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Chronic diarrhea; Chronic oral candidiasis; Combined immunodeficiency; Decreased proportion of CD4-positive T cells; Decreased proportion of CD8-positive T cells; Desquamation of skin soon after birth; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; Hypoplasia of the thymus; IgG deficiency; Lymphadenopathy; Otitis media; Pneumonia; Pruritus; Recurrent bacterial meningitis; Recurrent bronchitis; Recurrent fungal infections; Severe combined immunodeficiency; Sinusitis; Skin rash; Splenomegaly; Thickened skin; X-linked recessive inheritanceInflammatory Bowel Disease ; Primary Immunodeficiency
IL7R5p13.2100%gene with protein product146661Abnormal lymphocyte morphology; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Eczema; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Pneumonia; Pruritus; Recurrent opportunistic infections; Severe combined immunodeficiency; Splenomegaly; Thickened skinPrimary Immunodeficiency
INPPL111q13.4100%gene with protein product600829Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anterior rib cupping; Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Brachydactyly; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Edema; Fibular hypoplasia; Flat acetabular roof; Flat occiput; Frontal bossing; Generalized hypotonia; Hypertelorism; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Large fontanelles; Lateral clavicle hook; Long philtrum; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal cupping; Micromelia; Muscular hypotonia; Narrow chest; Polyhydramnios; Posterior rib cupping; Protuberant abdomen; Recurrent respiratory infections; Respiratory insufficiency; Rhizomelia; Severe platyspondyly; Severe short stature; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Squared iliac bones; Tapered finger
KRT212q13.13100%gene with protein product600194KRT2AAbnormal blistering of the skin; Acantholysis; Autosomal dominant inheritance; Congenital bullous ichthyosiform erythroderma; Edema; Ichthyosis; Palmoplantar keratoderma; Thin skinPalmoplantar keratoderma plus congenital ichthyosis
LAMB23p21.31100%gene with protein product150325LAMSAreflexia; Autosomal recessive inheritance; Blindness; Diffuse mesangial sclerosis; Edema; Generalized hypotonia; Hypoplasia of the ciliary body; Hypoplasia of the iris; Hypoproteinemia; Myopia; Neonatal onset; Nephrotic syndrome; Nystagmus; Posterior lenticonus; Proteinuria; Stage 5 chronic kidney disease; StrabismusNephrotic Syndrome
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
LPIN218p11.3199.99%gene with protein product605519Abnormality of bone marrow cell morphology; Acne; Arthralgia; Autosomal recessive inheritance; Bone pain; Cachexia; Chronic recurrent multifocal osteomyelitis; Congenital hypoplastic anemia; Edema; Failure to thrive; Fever; Flexion contracture; Growth delay; Headache; Hepatomegaly; Hypochromic microcytic anemia; Increased bone mineral density; Inflammatory abnormality of the skin; Leukocytosis; Metaphyseal irregularity; Myalgia; Osteomyelitis; Papule; Pustule; Splenomegaly; Synovitis
LYST1q42.399.95%gene with protein product606897CHS1Abnormality of coagulation; Abnormality of multiple cell lineages in the bone marrow; Amblyopia; Anemia; Areflexia; Autosomal recessive inheritance; Bruising susceptibility; Cranial nerve paralysis; Decreased nerve conduction velocity; Edema; Epistaxis; Fever; Foot dorsiflexor weakness; Gait disturbance; Generalized hypopigmentation; Giant melanosomes in melanocytes; Gingival bleeding; Gingivitis; Global developmental delay; Hepatomegaly; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Immunodeficiency; Intellectual disability; Iris hypopigmentation; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Macular hypoplasia; Neurodegeneration; Neutropenia; Nystagmus; Ocular albinism; Paresthesia; Periodontitis; Peripheral neuropathy; Photophobia; Progressive peripheral neuropathy; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Recurrent systemic pyogenic infections; Reduced visual acuity; Seizures; Skin ulcer; Splenomegaly; Strabismus; Thrombocytopenia; Tremor; Visual impairment; White hairAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
LYZ12q15100%gene with protein product153450Autosomal dominant inheritance; Cholestasis; Edema; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Nephropathy; Nephrotic syndrome; Proteinuria; Skin rash; Splenomegaly
MAPRE218q12.1-q12.100%gene with protein product605789Autosomal dominant inheritance; Broad neck; Carious teeth; Cleft palate; Cryptorchidism; Delayed speech and language development; Downslanted palpebral fissures; Edema; Epicanthus; Flat face; Generalized hypotonia; Hypoplasia of the corpus callosum; Hypospadias; Increased number of skin folds; Irregular hyperpigmentation; Low-set ears; Microcornea; Micrognathia; Microphthalmia; Microtia; Motor delay; Narrow mouth; Posteriorly rotated ears; Scrotal hypoplasia; Seizures; Short neck; Short palpebral fissure; Thickened skin; Upslanted palpebral fissure
MKKS20p12.2100%gene with protein product604896BBS6Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Aganglionic megacolon; Anal atresia; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Congenital hip dislocation; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Edema; Edema of the lower limbs; External genital hypoplasia; Foot polydactyly; Gait imbalance; Glandular hypospadias; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hydrometrocolpos; Hydronephrosis; Hydroureter; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Left ventricular hypertrophy; Mesoaxial hand polydactyly; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Poor coordination; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Rectovaginal fistula; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; Syndactyly; Transverse vaginal septum; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistulaBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MRPS1610q22.2100%gene with protein product609204Abnormal facial shape; Agenesis of corpus callosum; Autosomal recessive inheritance; Brachydactyly; Congenital onset; Edema; Elevated hepatic transaminases; Feeding difficulties in infancy; Heterogeneous; Hypokinesia; Increased serum lactate; Lactic acidosis; Lethargy; Low-set ears; Neonatal hypotonia; Patent ductus arteriosus; Redundant neck skin; Small for gestational age; Ventriculomegaly
MRPS223q23100%gene with protein product605810Abnormality of the amniotic fluid; Abnormality of the renal tubule; Antenatal onset; Ascites; Autosomal recessive inheritance; Congenital onset; Death in infancy; Delayed myelination; Edema; Generalized hypotonia; Growth delay; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Increased serum lactate; Leukoencephalopathy; Low-set ears; Metabolic acidosis; Microcephaly; Muscular hypotonia of the trunk; Posteriorly rotated ears; Redundant neck skin; Retrognathia; Seizures; Spastic tetraplegia
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MYO1E15q22.299.95%gene with protein product601479Autosomal recessive inheritance; Chronic kidney disease; Edema; Focal segmental glomerulosclerosis; Hematuria; Hypoalbuminemia; Nephrotic syndrome; Progressive; Proteinuria; Tubular atrophyNephrotic Syndrome
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
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
NPHS21q25.2100%gene with protein product604766Autosomal recessive inheritance; Edema; Focal segmental glomerulosclerosis; Hyperlipidemia; Hypoalbuminemia; Juvenile onset; Nephrotic syndrome; Proteinuria; Rapidly progressive; Stage 5 chronic kidney disease; Variable expressivityNephrotic Syndrome
PDSS26q2199.94%gene with protein product610564C6orf210Autosomal recessive inheritance; Cortical visual impairment; Edema; Feeding difficulties; Increased serum lactate; Neonatal hypotonia; Nephrotic syndrome; Proteinuria; Status epilepticusNephrotic Syndrome
PLCE110q23.3399.98%gene with protein product608414Autosomal recessive inheritance; Childhood onset; Diffuse mesangial sclerosis; Edema; Focal segmental glomerulosclerosis; Hypoalbuminemia; Nephrotic syndrome; Progressive; Proteinuria; Stage 5 chronic kidney diseaseNephrotic Syndrome
PLD13q26.3199.78%gene with protein product602382Arteria lusoria; Autosomal recessive inheritance; Edema; Hydronephrosis; Hydrops fetalis; Hydroureter; Inguinal hernia; Mitral stenosis; Mitral valve prolapse; Patent foramen ovale; Tricuspid regurgitation; Tricuspid valve prolapse; Urethral diverticulum
PTPRO12p12.399.48%gene with protein product600579Autosomal recessive inheritance; Edema; Focal segmental glomerulosclerosis; Hypoalbuminemia; Nephrotic syndrome; Proteinuria; Tubulointerstitial fibrosis; Variable expressivityNephrotic Syndrome
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
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate.157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
TNFRSF1A12p13.31100%gene with protein product191190TNFR1Abdominal pain; Amyloidosis; Arthralgia; Arthritis; Autosomal dominant inheritance; Conjunctival hyperemia; Constipation; Diarrhea; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Hepatic amyloidosis; Intestinal obstruction; Leukocytosis; Lymphadenopathy; Muscle stiffness; Myalgia; Orchitis; Pericarditis; Periorbital edema; Pleuritis; Skin rash; Splenomegaly; VomitingPrimary Immunodeficiency
TUBB6p21.33100%gene with protein product191130Abnormality of cardiovascular system morphology; Abnormality of the skin; Ataxia; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Cerebellar hypoplasia; Cleft palate; Congenital onset; Delayed speech and language development; Edema; Epicanthus; Flat face; Global developmental delay; High palate; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic nipples; Increased number of skin folds; Intellectual disability; Irregular hyperpigmentation; Localized neuroblastoma; Low-set ears; Microcephaly; Motor delay; Narrow mouth; Periorbital fullness; Posteriorly rotated ears; Short neck; Short palpebral fissure; Thickened skin; Wide intermamillary distance
USP815q21.2100%gene with protein product603158Abdominal obesity; Abnormal fear/anxiety-related behavior; Acne; Adrenal hyperplasia; Alkalosis; Anxiety; Biconcave vertebral bodies; Bruising susceptibility; Depressivity; Diabetes mellitus; Edema; Facial erythema; Failure to thrive; Fatigue; Generalized hirsutism; Glucose intolerance; Hirsutism; Hypertension; Hypokalemia; Immunodeficiency; Increased circulating ACTH level; Infertility; Kyphosis; Lipodystrophy; Menorrhagia; Metrorrhagia; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoporosis; Pituitary adenoma; Poor wound healing; Psychotic mentation; Purpura; Recurrent fractures; Round face; Skeletal muscle atrophy; Striae distensae; Thin skin; Truncal obesity; Vertebral compression fractures
ZNHIT317q12100%gene with protein product604500TRIP3Abnormality of eye movement; Abnormality of movement; Abnormality of the hand; Abnormality of the palate; Abnormality of upper lip; Anteverted nares; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Developmental stagnation; Drowsiness; Edema; Edema of the lower limbs; Epicanthus; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperreflexia; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile encephalopathy; Infantile spasms; Intellectual disability, profound; Intellectual disability, severe; Limitation of joint mobility; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Myoclonus; Narrow forehead; Neuronal loss in central nervous system; Open mouth; Optic atrophy; Pachygyria; Palpebral edema; Peripheral dysmyelination; Peripheral edema; Polymicrogyria; Porencephalic cyst; Progressive microcephaly; Recurrent respiratory infections; Retrognathia; Seizures; Severe muscular hypotonia; Short nose; Tapered finger; Tented upper lip vermilion; Undetectable visual evoked potentials; Ventriculomegaly; Visual loss


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


  SUGGESTED CUSTOM SLICES  

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

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