XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Epistaxis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACVRL112q13.13100%gene with protein product601284ACVRLK1, ORW2Anemia; Autosomal dominant inheritance; Brain abscess; Cavernous hemangioma; Cerebral arteriovenous malformation; Cerebral hemorrhage; Cholecystitis; Choriocapillaris atrophy; Cirrhosis; Clubbing; Conjunctival telangiectasia; Cyanosis; Dyspnea; Epistaxis; Fingerpad telangiectases; Gastrointestinal angiodysplasia; Gastrointestinal arteriovenous malformation; Gastrointestinal telangiectasia; Hematemesis; Hematochezia; Hepatic arteriovenous malformation; Heterogeneous; Hypertension; Ischemic stroke; Lip telangiectasia; Melena; Microcytic anemia; Migraine; Nail bed telangiectasia; Nasal mucosa telangiectasia; Palate telangiectasia; Polycythemia; Portal hypertension; Pulmonary arterial hypertension; Pulmonary arteriovenous malformation; Right-to-left shunt; Seizures; Spinal arteriovenous malformation; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Subarachnoid hemorrhage; Telangiectasia of the skin; Tongue telangiectasia; Transient ischemic attack; Visceral angiomatosis
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
DTNBP16p22.3100%gene with protein product607145Albinism; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired platelet aggregation; Nystagmus; Ocular albinism; Reduced visual acuity; Visual impairmentAlbinism
ENG9q34.11100%gene with protein product131195ORW1, ORWAbnormal circle of Willis morphology; Abnormality of brainstem morphology; Anemia; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Brain abscess; Cavernous hemangioma; Cerebral arteriovenous malformation; Cerebral berry aneurysm; Cerebral hemorrhage; Cholecystitis; Cirrhosis; Clubbing; Conjunctival telangiectasia; Cyanosis; Dilatation of celiac artery; Dilatation of mesenteric artery; Dyspnea; Epistaxis; Fingerpad telangiectases; Gastrointestinal angiodysplasia; Gastrointestinal arteriovenous malformation; Gastrointestinal telangiectasia; Hematemesis; Hematochezia; Hemiparesis; Hepatic arteriovenous malformation; Heterogeneous; High-output congestive heart failure; Hypertension; Ischemic stroke; Lip telangiectasia; Melena; Microcytic anemia; Migraine; Nail bed telangiectasia; Nasal mucosa telangiectasia; Palate telangiectasia; Polycythemia; Portal hypertension; Pulmonary arteriovenous malformation; Right-to-left shunt; Seizures; Spinal arteriovenous malformation; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Subarachnoid hemorrhage; Telangiectasia of the skin; Tongue telangiectasia; Transient ischemic attack; Venous varicosities of celiac and mesenteric vessels; Visceral angiomatosis; Visual field defect
EPOR19p13.2100%gene with protein product133171Abdominal pain; Abnormal hemoglobin; Arthralgia; Epistaxis; Fatigue; Headache; Polycythemia; Pruritus; Venous thrombosis; Vertigo
ETV612p13.2100%gene with protein product600618Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Petechiae; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
F1013q3499.61%gene with protein product613872Autosomal recessive inheritance; Epistaxis; Gingival bleeding; Intracranial hemorrhage; Intramuscular hematoma; Joint hemorrhage; Menorrhagia; Prolonged partial thromboplastin time; Prolonged prothrombin time; Reduced factor X activity; Variable expressivityRhabdomyolysis
F114q35.2100%gene with protein product264900Abnormal bleeding; Autosomal dominant inheritance; Autosomal recessive inheritance; Epistaxis; Menorrhagia; Prolonged bleeding after dental extraction; Prolonged partial thromboplastin time; Reduced factor XI activityPalmoplantar keratoderma plus congenital ichthyosis
F13A16p25.1100%gene with protein product134570F13AAutosomal recessive inheritance; Bruising susceptibility; Congenital onset; Epistaxis; Intracranial hemorrhage; Joint hemorrhage; Reduced factor XIII activity; Spontaneous hematomas
F211p11.2100%gene with protein product176930Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebral venous thrombosis; Childhood onset; Congenital onset; Deep venous thrombosis; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Joint hemorrhage; Menorrhagia; Prolonged bleeding time; Prolonged partial thromboplastin time; Prolonged prothrombin time; Pulmonary embolism; Recurrent thrombophlebitis; Reduced prothrombin activity; Thromboembolism; Variable expressivityAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Congenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia ; Fanconi Anemia ; Heterotaxy ; Inflammatory Bowel Disease ; Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
F51q24.299.91%gene with protein product612309Abdominal pain; Adult onset; Ascites; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cirrhosis; Deep venous thrombosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Fever; Hepatomegaly; Hypercoagulability; Menorrhagia; Portal hypertension; Preeclampsia; Prolonged bleeding time; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prolonged whole-blood clotting time; Reduced factor V activity; Resistance to activated protein C; SplenomegalyHeterotaxy
F713q34100%gene with protein product613878Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Intracranial hemorrhage; Intramuscular hematoma; Joint hemorrhage; Menorrhagia; Prolonged bleeding after surgery; Prolonged prothrombin time; Reduced factor VII activity; Variable expressivityEctodermal Dysplasia ; Heterotaxy ; Obesity
F713q34100%gene with protein product613878Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Intracranial hemorrhage; Intramuscular hematoma; Joint hemorrhage; Menorrhagia; Prolonged bleeding after surgery; Prolonged prothrombin time; Reduced factor VII activity; Variable expressivityEctodermal Dysplasia ; Heterotaxy ; Obesity
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
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
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
FGB4q31.3100%gene with protein product134830Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FGB4q31.3100%gene with protein product134830Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FGB4q31.3100%gene with protein product134830Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FGG4q32.1100%gene with protein product134850Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FGG4q32.1100%gene with protein product134850Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FGG4q32.1100%gene with protein product134850Abnormal bleeding; Autosomal recessive inheritance; Epistaxis; Gastrointestinal hemorrhage; Gingival bleeding; Hypofibrinogenemia; Joint swelling; Menometrorrhagia; Splenic rupture; Spontaneous abortion; Venous thrombosis
FYB15p13.199.3%gene with protein product602731FYBAbnormality of the skeletal system; Autosomal recessive inheritance; Decreased mean platelet volume; Epistaxis; Thrombocytopenia
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GDF210q11.22100%gene with protein product605120Autosomal dominant inheritance; Cavernous hemangioma; Cholecystitis; Epistaxis; Microcytic anemia; Migraine; Portal hypertension; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Telangiectasia; Telangiectasia of the skin; Visceral angiomatosis
GFI1B9q34.13100%gene with protein product604383Abnormal thrombocyte morphology; Abnormality of the menstrual cycle; Absence of alpha granules; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Infantile onset; Myelodysplasia; Myelofibrosis; Prolonged bleeding time; Reduced prothrombin consumption; Splenomegaly; Thrombocytopenia; Variable expressivity
GFI1B9q34.13100%gene with protein product604383Abnormal thrombocyte morphology; Abnormality of the menstrual cycle; Absence of alpha granules; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Infantile onset; Myelodysplasia; Myelofibrosis; Prolonged bleeding time; Reduced prothrombin consumption; Splenomegaly; Thrombocytopenia; Variable expressivity
GGCX2p11.299.99%gene with protein product137167Abnormal bleeding; Abnormality of coagulation; Abnormality of the optic nerve; Absent retinal pigment epithelium; Angioid streaks of the fundus; Atherosclerosis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Bruising susceptibility; Cutis laxa; Epiphyseal stippling; Epistaxis; Increased number of skin folds; Joint hemorrhage; Nyctalopia; Papule; Prolonged partial thromboplastin time; Reduced factor IX activity; Reduced factor VII activity; Reduced factor X activity; Reduced prothrombin activity; Redundant skin; Rod-cone dystrophy; Short distal phalanx of finger; Short nose; Strabismus
GGCX2p11.299.99%gene with protein product137167Abnormal bleeding; Abnormality of coagulation; Abnormality of the optic nerve; Absent retinal pigment epithelium; Angioid streaks of the fundus; Atherosclerosis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Bruising susceptibility; Cutis laxa; Epiphyseal stippling; Epistaxis; Increased number of skin folds; Joint hemorrhage; Nyctalopia; Papule; Prolonged partial thromboplastin time; Reduced factor IX activity; Reduced factor VII activity; Reduced factor X activity; Reduced prothrombin activity; Redundant skin; Rod-cone dystrophy; Short distal phalanx of finger; Short nose; Strabismus
GP1BA17p13.299.92%gene with protein product606672GP1BAbnormal bleeding; Abnormality of abdomen morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gingival bleeding; Hemolytic anemia; Increased mean platelet volume; Intermittent thrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding after dental extraction; Prolonged bleeding time; Purpura; Splenomegaly; Stomatocytosis; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
GP1BA17p13.299.92%gene with protein product606672GP1BAbnormal bleeding; Abnormality of abdomen morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gingival bleeding; Hemolytic anemia; Increased mean platelet volume; Intermittent thrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding after dental extraction; Prolonged bleeding time; Purpura; Splenomegaly; Stomatocytosis; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
GP1BB22q11.2199.89%gene with protein product138720Abnormal aortic arch morphology; Abnormal bleeding; Abnormal pulmonary valve morphology; Abnormality of abdomen morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Epistaxis; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Increased mean platelet volume; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Menorrhagia; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prolonged bleeding time; Prominent nasal bridge; Ptosis; Purpura; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Thrombocytopenia; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
GP619q13.4291.35%gene with protein product605546Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Infantile onset; Menorrhagia; Prolonged bleeding time; Variable expressivity
GP93q21.3100%gene with protein product173515Abnormal bleeding; Abnormality of abdomen morphology; Autosomal recessive inheritance; Epistaxis; Increased mean platelet volume; Menorrhagia; Prolonged bleeding time; Purpura; Thrombocytopenia
HLA-DPB16p21.3299.92%gene with protein productXomeDxSlice is not appropriate.142858HLA-DP1BAbdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
HPS110q24.2100%gene with protein product604982HPSAbdominal pain; Abnormality of the hair; Albinism; Autosomal recessive inheritance; Bruising susceptibility; Cardiomyopathy; Epistaxis; Freckles in sun-exposed areas; Freckling; Gingival bleeding; Hematochezia; Heterogeneous; Inflammation of the large intestine; Melanocytic nevus; Nystagmus; Ocular albinism; Prolonged bleeding time; Pulmonary fibrosis; Renal insufficiency; Restrictive ventilatory defect; Severe visual impairmentAlbinism
HPS610q24.32100%gene with protein product607522Abnormal platelet granules; Albinism; Autosomal recessive inheritance; Epistaxis; Impaired ADP-induced platelet aggregation; Ocular albinismAlbinism
ITGA2B17q21.31100%gene with protein product607759GP2BAnemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Decreased platelet glycoprotein IIb-IIIa; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Gingival bleeding; Impaired platelet aggregation; Intracranial hemorrhage; Macrothrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding time; Purpura
ITGB317q21.32100%gene with protein product173470GP3AAnemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Decreased platelet glycoprotein IIb-IIIa; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Gingival bleeding; Impaired platelet aggregation; Intracranial hemorrhage; Macrothrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding time; Purpura
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
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
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
MCFD22p21100%gene with protein product607788Autosomal recessive inheritance; Epistaxis; Menorrhagia; Persistent bleeding after trauma; Reduced factor V activity; Reduced factor VIII activity
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
MYH922q12.3100%gene with protein product160775DFNA17Abnormal thrombosis; Abnormality of the eye; Abnormality of the urinary system; Autosomal dominant inheritance; Bruising susceptibility; Cataract; Congenital cataract; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Hematuria; High-frequency hearing impairment; High-frequency sensorineural hearing impairment; Hypertension; Juvenile onset; Leukocyte inclusion bodies; Macrothrombocytopenia; Menorrhagia; Microscopic hematuria; Myocardial infarction; Nephritis; Neutrophil inclusion bodies; Progressive sensorineural hearing impairment; Prolonged bleeding time; Proteinuria; Stage 5 chronic kidney disease; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
NBEAL23p21.3199.37%gene with protein product614169Abnormality of the menstrual cycle; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired collagen-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Menorrhagia; Myelodysplasia; Myelofibrosis; Progressive; Prolonged bleeding time; Reduced quantity of Von Willebrand factor; Reduced von Willebrand factor activity; Splenomegaly; Thrombocytopenia
NBEAL23p21.3199.37%gene with protein product614169Abnormality of the menstrual cycle; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired collagen-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Menorrhagia; Myelodysplasia; Myelofibrosis; Progressive; Prolonged bleeding time; Reduced quantity of Von Willebrand factor; Reduced von Willebrand factor activity; Splenomegaly; Thrombocytopenia
P2RX117p13.399.99%gene with protein product600845Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired ADP-induced platelet aggregation; Persistent bleeding after trauma; Prolonged bleeding after surgery
P2RY123q25.1100%gene with protein product600515Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Impaired ADP-induced platelet aggregation; Persistent bleeding after trauma; Prolonged bleeding after surgery
PLAU10q22.2100%gene with protein product191840Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Impaired epinephrine-induced platelet aggregation; Joint hemorrhage; Menorrhagia; Thrombocytopenia
PRKACG9q21.11100%gene with protein product176893Anemia; Autosomal recessive inheritance; Epistaxis; Macrothrombocytopenia; Menorrhagia; Spontaneous hematomas
PRTN319p13.3100%gene with protein product177020Abdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
RASGRP211q13.199.98%gene with protein product605577Autosomal recessive inheritance; Epistaxis; Infantile onset; Prolonged bleeding time
RUNX121q22.12100%gene with protein product151385AML1, CBFA2Abnormality of basophils; Acute monocytic leukemia; Acute myeloid leukemia; Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Fatigue; Fever; Impaired platelet aggregation; Leukocytosis; Lymphoma; Myelodysplasia; Myeloproliferative disorder; Neuroblastoma; Poor appetite; Prolonged bleeding time; Splenomegaly; Thrombocytopenia; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes
SLFN1417q12100%gene with protein product614958Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Menorrhagia; Thrombocytopenia
SMAD418q21.2100%gene with protein product600993MADH42-3 toe syndactyly; Abdominal pain; Abnormal cardiac septum morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pubic bone; Abnormality of the ribs; Abnormality of the voice; Anemia; Anorexia; Aortic valve stenosis; Autism; Autosomal dominant inheritance; Back pain; Blepharophimosis; Brachydactyly; Broad ribs; Camptodactyly; Cavernous hemangioma; Cholecystitis; Chronic fatigue; Clinodactyly; Coarctation of aorta; Cone-shaped epiphysis; Craniofacial hyperostosis; Cryptorchidism; Deeply set eye; EMG abnormality; Enlarged vertebral pedicles; Epistaxis; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Failure to thrive; Fine hair; Functional intestinal obstruction; Generalized muscle hypertrophy; Global developmental delay; Hamartomatous polyposis; Hearing impairment; Hematochezia; High hypermetropia; Hypermetropia; Hypertelorism; Hypertension; Hypoalbuminemia; Hypokalemia; Hypoplasia of the maxilla; Hypoplastic iliac wing; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Intrauterine growth retardation; Jaundice; Joint stiffness; Large iliac wings; Laryngotracheal stenosis; Limitation of joint mobility; Low-set ears; Lymphadenopathy; Malar flattening; Mandibular prognathia; Microcephaly; Microcytic anemia; Microtia; Midface retrusion; Migraine; Multiple gastric polyps; Narrow mouth; Neoplasm of the pancreas; Overlapping toe; Pancreatic adenocarcinoma; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Poor appetite; Portal hypertension; Prominent nasal bridge; Ptosis; Radial deviation of finger; Seizures; Severe short stature; Short finger; Short long bone; Short neck; Short palm; Short palpebral fissure; Short philtrum; Short stature; Short toe; Skeletal muscle hypertrophy; Somatic mutation; Sparse hair; Specific learning disability; Spontaneous hematomas; Stiff skin; Strabismus; Telangiectasia of the skin; Thick eyebrow; Thickened calvaria; Thickened skin; Thin upper lip vermilion; Thin vermilion border; Vertebral fusion; Visceral angiomatosis; Weight loss
TBXAS17q3499.99%gene with protein product274180Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of immune system physiology; Abnormality of pelvic girdle bone morphology; Abnormality of the metaphysis; Abnormality of tibia morphology; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bowing of the long bones; Bruising susceptibility; Craniofacial hyperostosis; Diaphyseal dysplasia; Diaphyseal thickening; Epistaxis; Hyperostosis cranialis interna; Increased bone mineral density; Myelofibrosis; Phenotypic variability; Prolonged bleeding time; Refractory anemia; Thrombocytopenia
TET24q24100%gene with protein product612839KIAA1546Abdominal pain; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Bruising susceptibility; Chest pain; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Increased megakaryocyte count; Myelodysplasia; Myelofibrosis; Myocardial infarction; Paresthesia; Prolonged bleeding time; Respiratory insufficiency; Somatic mutation; Splenomegaly; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
VWF12p13.3198.13%gene with protein product613160F8VWFAortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal angiodysplasia; Gastrointestinal hemorrhage; Impaired platelet aggregation; Incomplete penetrance; Joint hemorrhage; Menorrhagia; Mitral valve prolapse; Persistent bleeding after trauma; Prolonged bleeding time; Prolonged whole-blood clotting time; Reduced factor VIII activity; Reduced von Willebrand factor activity; Thrombocytopenia; Variable expressivity
VWF12p13.3198.13%gene with protein product613160F8VWFAortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal angiodysplasia; Gastrointestinal hemorrhage; Impaired platelet aggregation; Incomplete penetrance; Joint hemorrhage; Menorrhagia; Mitral valve prolapse; Persistent bleeding after trauma; Prolonged bleeding time; Prolonged whole-blood clotting time; Reduced factor VIII activity; Reduced von Willebrand factor activity; Thrombocytopenia; Variable expressivity
VWF12p13.3198.13%gene with protein product613160F8VWFAortic valve stenosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal angiodysplasia; Gastrointestinal hemorrhage; Impaired platelet aggregation; Incomplete penetrance; Joint hemorrhage; Menorrhagia; Mitral valve prolapse; Persistent bleeding after trauma; Prolonged bleeding time; Prolonged whole-blood clotting time; Reduced factor VIII activity; Reduced von Willebrand factor activity; Thrombocytopenia; Variable expressivity
WASXp11.2399.19%gene with protein product300392IMD2, THC, WASPAbnormal platelet morphology; Abnormality of eosinophils; Abnormality of the musculature; Abnormality of the skin; Autoimmunity; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Congenital neutropenia; Congenital thrombocytopenia; Decreased mean platelet volume; Dyspnea; Eczema; Epistaxis; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Increased IgA level; Increased IgE level; Inflammation of the large intestine; Intermittent thrombocytopenia; Joint hemorrhage; Lymphopenia; Microcytic anemia; Monocytopenia; Neutropenia; Petechiae; Prolonged bleeding time; Recurrent bacterial infections; Recurrent respiratory infections; Sinusitis; Specific learning disability; Spontaneous hematomas; Thrombocytopenia; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency


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