XomeDxSlice Tool

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

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Phenotypes
Irregular hyperpigmentation

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
BRCA213q13.199.99%gene with protein product600185FANCD1, FACD, FANCDAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Microcephaly; Nephroblastoma; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Somatic mutation; Thrombocytopenia; Tracheoesophageal fistula; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
BRIP117q23.2100%gene with protein product605882FANCJAbnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Esophageal atresia; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Postnatal growth retardation; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
CARD1417q25.3100%gene with protein product607211PSORS2Autosomal dominant inheritance; Epidermal acanthosis; Erythroderma; Hyperkeratosis; Irregular hyperpigmentation; Palmoplantar keratoderma; Papule; Parakeratosis; Pruritus; Psoriasiform dermatitis; Subungual hyperkeratosisPalmoplantar keratoderma plus congenital ichthyosis
CD282q33.2100%gene with protein product186760Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
COL3A12q32.2100%gene with protein product120180EDS4AAbnormal circle of Willis morphology; Abnormal oral frenulum morphology; Abnormality of brainstem morphology; Abnormality of the eyelashes; Abnormality of the urinary system; Absent earlobe; Alopecia of scalp; Aortic dissection; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Arterial dissection; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Bladder diverticulum; Bruising susceptibility; Carious teeth; Cerebral berry aneurysm; Cigarette-paper scars; Cognitive impairment; Convex nasal ridge; Cryptorchidism; Dermal translucency; Dilatation of the cerebral artery; Epicanthus; Excessive wrinkled skin; Fine hair; Flat face; Foot acroosteolysis; Fragile skin; Gastrointestinal infarctions; Glaucoma; Global developmental delay; Hemiparesis; Hemoptysis; Hyperextensible skin; Hypermobility of distal interphalangeal joints; Hypertelorism; Hypertension; Hypokalemia; Inguinal hernia; Intellectual disability; Internal hemorrhage; Irregular hyperpigmentation; Joint dislocation; Joint hyperflexibility; Joint hypermobility; Joint laxity; Keratoconus; Lipoatrophy; Macule; Melanocytic nevus; Micrognathia; Mitral valve prolapse; Molluscoid pseudotumors; Osteoarthritis; Osteolytic defects of the phalanges of the hand; Pectus excavatum; Periodontitis; Peripheral arteriovenous fistula; Pneumothorax; Premature birth; Premature delivery because of cervical insufficiency or membrane fragility; Premature loss of teeth; Proptosis; Protruding ear; Respiratory insufficiency; Scoliosis; Seizures; Short foot; Short stature; Small hand; Soft skin; Spontaneous pneumothorax; Sprengel anomaly; Striae distensae; Talipes equinovarus; Telangiectasia of the skin; Telecanthus; Thin skin; Thin vermilion border; Transient ischemic attack; Uterine prolapse; Varicose veins; Visual field defect
CTLA42q33.2100%gene with protein product123890CELIAC3, IDDM12Abdominal pain; Abnormal lymphocyte morphology; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Arthralgia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Cutaneous T-cell lymphoma; Decreased antibody level in blood; Diarrhea; Dry skin; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Erythema; Erythroderma; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Inflammatory abnormality of the eye; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Nausea and vomiting; Neoplasm of the skin; Palmoplantar keratoderma; Papule; Periorbital edema; Poikiloderma; Proteinuria; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin plaque; Skin rash; Splenomegaly; Vasculitis; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency ; 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
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCA16q24.3100%gene with protein product607139FACA, FANCHAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCBXp22.299.65%gene with protein product300515Abnormal vertebral morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome stability; Abnormality of the optic nerve; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anal atresia; Anemia; Aplasia/Hypoplasia of the radius; Aqueductal stenosis; Atrioventricular canal defect; Enlarged kidney; Esophageal atresia; Global developmental delay; Growth delay; Hand polydactyly; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypopigmented skin patches; Hypoplasia of the radius; Intellectual disability; Intrauterine growth retardation; Irregular hyperpigmentation; Leukopenia; Low-set ears; Microcephaly; Microcornea; Phenotypic variability; Polyhydramnios; Proximal placement of thumb; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Scoliosis; Short humerus; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistula; Transposition of the great arteries; Urethral atresia; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
FANCC9q22.32100%gene with protein product613899FACCAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCD23p25.399.99%gene with protein product613984FACD, FANCDAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCE6p21.31100%gene with protein product613976FACEAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCF11p14.3100%gene with protein product613897Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCG9p13.3100%gene with protein product602956XRCC9Abnormality of chromosome stability; Abnormality of the thumb; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Multiple cafe-au-lait spots; Myelodysplasia; Neutropenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCI15q26.1100%gene with protein product611360KIAA1794Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
FANCL2p16.1100%gene with protein product608111PHF9Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cafe-au-lait spot; Chromosome breakage; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Phenotypic variability; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCM14q21.299.42%gene with protein product609644KIAA1596Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Esophageal atresia; Global developmental delay; Growth delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FERMT120p12.399.78%gene with protein product607900C20orf42Abnormal blistering of the skin; Abnormal pigmentation of the oral mucosa; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the preputium; Amniotic constriction ring; Ankyloglossia; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Cheilitis; Colitis; Corneal erosion; Cutaneous photosensitivity; Dermal atrophy; Diffuse skin atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Eczema; Erythema; Esophageal stricture; Esophagitis; Finger syndactyly; Fragile skin; Gingival bleeding; Gingivitis; Hypopigmented skin patches; Ichthyosis; Irregular hyperpigmentation; Narrow mouth; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Periodontitis; Phimosis; Poikiloderma; Premature loss of primary teeth; Pustule; Recurrent skin infections; Ridged nail; Skin ulcer; Spotty hyperpigmentation; Spotty hypopigmentation; Symblepharon; Telangiectases in sun-exposed and nonexposed skin; Telangiectasia of the skin; Thin skin; Turricephaly; Urticaria; XerostomiaPalmoplantar keratoderma plus congenital ichthyosis
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
HGD3q13.3399.98%gene with protein product607474AKUAbnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the nail; Abnormality of the nose; Abnormality of the urinary system; Abnormality of vision; Aminoaciduria; Aortic aneurysm; Aortic valve calcification; Arthralgia; Arthritis; Arthropathy; Autosomal recessive inheritance; Back pain; Blue sclerae; Calcification of cartilage; Cartilage destruction; Coronary artery calcification; Growth abnormality; Hearing abnormality; Intervertebral disc degeneration; Intervertebral disk calcification; Irregular hyperpigmentation; Joint dislocation; Joint stiffness; Joint swelling; Kyphosis; Mitral valve calcification; Nephrolithiasis; Osteoarthritis; Pigmentation of the sclera; Prostatitis; Tendon rupture; Thickened Achilles tendon; Vertebral fusionNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
HRAS11p15.5100%gene with protein product190020HRAS1Abnormal dermatoglyphics; Abnormality of dental color; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of finger; Abnormality of the fingernails; Abnormality of toe; Abnormality of vision; Acanthosis nigricans; Achilles tendon contracture; Adenoma sebaceum; Alopecia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Arnold-Chiari type I malformation; Arrhythmia; Asymmetric growth; Atrial septal defect; Autosomal dominant inheritance; Barrel-shaped chest; Basal cell carcinoma; Biparietal narrowing; Bladder carcinoma; Bronchomalacia; Cavernous hemangioma; Cerebral atrophy; Cerebral cortical atrophy; Coarctation of aorta; Coarse facial features; Coloboma; Concave nail; Cranial asymmetry; Cryptorchidism; Curly hair; Deep palmar crease; Deep plantar creases; Deep-set nails; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Enlarged cerebellum; Epicanthus; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fragile nails; Frontal bossing; Full cheeks; Gastroesophageal reflux; Genu recurvatum; Global developmental delay; Hemangioma; Hemimegalencephaly; High palate; Hoarse voice; Horseshoe kidney; Hydrocephalus; Hyperextensibility of the finger joints; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypertelorism; Hypertrophic cardiomyopathy; Hypoglycemia; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplastic toenails; Ichthyosis; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Keratoconus; Kyphoscoliosis; Lack of skin elasticity; Limited elbow movement; Low-set ears; Macrocephaly; Macroglossia; Melanocytic nevus; Micrognathia; Microphthalmia; Mitral valve prolapse; Muscular hypotonia; Narrow palate; Nevus; Nevus sebaceous; Obstructive sleep apnea; Osteopenia; Overgrowth; Papilloma; Pectus carinatum; Plagiocephaly; Pneumothorax; Pointed chin; Polyhydramnios; Poor suck; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Ptosis; Pulmonic stenosis; Pyloric stenosis; Recurrent fractures; Reduced tendon reflexes; Redundant neck skin; Redundant skin; Respiratory failure; Rhabdomyosarcoma; Seizures; Short neck; Short stature; Somatic mosaicism; Sparse hair; Sporadic; Strabismus; Sudden death; Talipes equinovarus; Telecanthus; Thick lower lip vermilion; Thickened Achilles tendon; Thickened nuchal skin fold; Thin nail; Tracheomalacia; Ulnar deviation of finger; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Vestibular Schwannoma; Webbed neck; Wide anterior fontanel; Woolly hair
IKBKGXq2825.01%gene with protein productLow coverage on XomeDxSlice due to pseudogene. Please see our test menu for analysis of IKBKG with alternate methods: http://www.genedx.com/test-catalog/disorders/incontinentia-pigmenti-ip/300248IP2, IP1, NEMOAbnormal blistering of the skin; Abnormal hand morphology; Abnormality of dental morphology; Abnormality of skin pigmentation; Alopecia; Asymmetric growth; Atrophic, patchy alopecia; Attention deficit hyperactivity disorder; Breast aplasia; Breast hypoplasia; Camptodactyly of finger; Cataract; Coarse hair; Conical incisor; Corneal opacity; Delayed eruption of teeth; Deviation of finger; Dry skin; Dysgammaglobulinemia; Ectodermal dysplasia; Eosinophilia; Erythema; Fine hair; Frontal bossing; Gait disturbance; Hearing abnormality; Hemivertebrae; Hyperhidrosis; Hyperkeratosis; Hypodontia; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic fingernail; Hypoplastic nipples; IgA deficiency; IgG deficiency; Immunodeficiency; Impaired memory B cell generation; Increased IgM level; Intellectual disability; Irregular hyperpigmentation; Keratitis; Kyphoscoliosis; Lymphedema; Microcephaly; Microphthalmia; Nail dysplasia; Nail dystrophy; Nail pits; Optic atrophy; Oral cleft; Osteolysis; Osteopetrosis; Recurrent bacterial infections; Recurrent infections; Recurrent mycobacterium avium complex infections; Recurrent streptococcus pneumoniae infections; Retinal detachment; Retinal hemorrhage; Retinal vascular proliferation; Ridged nail; Scarring; Scoliosis; Seizures; Short stature; Skin rash; Skin ulcer; Sparse hair; Spasticity; Strabismus; Supernumerary nipple; Supernumerary ribs; Telangiectasia of the skin; Thick nail; Uveitis; Verrucae; Visual impairment; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
MAD2L21p36.22100%gene with protein product604094Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Elevated alpha-fetoprotein; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Neutropenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
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
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
PALB216p12.299.95%gene with protein product610355FANCNAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Aplastic anemia; Autosomal recessive inheritance; Back pain; Breast carcinoma; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Epicanthus; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Hypertelorism; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Medulloblastoma; Microcephaly; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Postnatal growth retardation; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short neck; Short palpebral fissure; Short stature; Short thumb; Thrombocytopenia; Tracheoesophageal fistula; Ventricular septal defect; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
RAD5115q15.199.9%gene with protein product179617RAD51A, RECA, FANCRAbnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anal atresia; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Bimanual synkinesia; Breast carcinoma; Global developmental delay; Growth delay; Hydrocephalus; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
RAD51C17q2299.79%gene with protein product602774FANCOAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of the fallopian tube; Absent thumb; Almond-shaped palpebral fissure; Anal atresia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Breast carcinoma; Cryptorchidism; Esophageal atresia; External genital hypoplasia; Global developmental delay; Hydronephrosis; Hypopigmented skin patches; Hypoplasia of the radius; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Rectal atresia; Renal cyst; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Stage 5 chronic kidney disease; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
RFWD316q23.1100%gene with protein product614151Abnormality of chromosome stability; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
SLX416p13.3100%gene with protein product613278BTBD12, FANCPAbnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cafe-au-lait spot; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pancytopenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistula; Variable expressivityAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
SPINK55q32100%gene with protein product605010Abnormality of the musculature; Acanthosis nigricans; Allergic rhinitis; Angioedema; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital nonbullous ichthyosiform erythroderma; Decreased antibody level in blood; Eczema; Emphysema; Erythroderma; Failure to thrive; Fine hair; Global developmental delay; Hypernatremic dehydration; Increased IgE level; Intellectual disability; Irregular hyperpigmentation; Malabsorption; Recurrent infections; Recurrent respiratory infections; Seizures; Sparse and thin eyebrow; Sparse scalp hair; Trichorrhexis nodosa; Urticaria; Villous atrophyPalmoplantar keratoderma plus congenital ichthyosis
TNFRSF1B1p36.22100%gene with protein product191191TNFR2Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
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
UBE2T1q32.1100%gene with protein product610538FANCTAbnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bone marrow hypocellularity; Duplication of thumb phalanx; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Pancytopenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; ThrombocytopeniaBone Marrow Failure Syndromes
XRCC27q36.1100%gene with protein product600375Abnormality of chromosome stability; Absent scaphoid; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Global developmental delay; Growth delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Patent ductus arteriosus; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes


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


  SUGGESTED CUSTOM SLICES  

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

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