XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Autoimmune hemolytic anemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADA20q13.12100%gene with protein product608958Abnormal lymphocyte morphology; Abnormality of pelvic girdle bone morphology; Absence of lymph node germinal center; Absent specific antibody response; Absent tonsils; Allergy; Alopecia; Anterior rib cupping; Anti-thyroid peroxidase antibody positivity; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Asthma; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; B lymphocytopenia; B-cell lymphoma; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Diffuse mesangial sclerosis; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; IgA deficiency; IgM deficiency; Immunoglobulin IgG2 deficiency; Increased IgE level; Inflammatory abnormality of the skin; Lack of T cell function; Lymphadenopathy; Platyspondyly; Pneumonia; Pruritus; Pulmonary insufficiency; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent otitis media; Recurrent pneumonia; Recurrent upper respiratory tract infections; Recurrent viral infections; Reduced red cell adenosine deaminase activity; Severe B lymphocytopenia; Severe combined immunodeficiency; Sinusitis; Somatic mosaicism; Splenomegaly; Thickened skinAutoimmune Disorders ; Common Variable Immune Deficiency ; Hemolytic Anemia ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
CASP102q33.1100%gene with protein product601762Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Chronic noninfectious lymphadenopathy; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Follicular hyperplasia; Hepatomegaly; Increase in B cell count; Increased IgA level; Increased IgG level; Increased IgM level; Increased level of L-fucose in urine; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Juvenile onset; Lymphoma; Malar rash; Nephritis; Nephrotic syndrome; Platelet antibody positive; Reduced delayed hypersensitivity; Rheumatoid factor positive; Smooth muscle antibody positivity; Somatic mutation; Splenomegaly; Stomach cancer; Urticaria; VasculitisAutoimmune Disorders
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
FAS10q23.31100%gene with protein product134637FAS1, APT1, TNFRSF6Abdominal pain; Abnormal blistering of the skin; Abnormal eyebrow morphology; Abnormality of the eyelashes; Acne; Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Arthralgia; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Cataract; Chronic noninfectious lymphadenopathy; Cognitive impairment; Confusion; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Fatigue; Fever; Follicular hyperplasia; Gait disturbance; Gastrointestinal hemorrhage; Glaucoma; Hemiparesis; Hepatomegaly; Hypopigmented skin patches; Immunologic hypersensitivity; Increased IgA level; Increased IgG level; Increased IgM level; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Platelet antibody positive; Poliosis; Premature graying of hair; Recurrent aphthous stomatitis; Reduced delayed hypersensitivity; Retinal detachment; Rheumatoid factor positive; Sensorineural hearing impairment; Short stature; Smooth muscle antibody positivity; Sparse scalp hair; Splenomegaly; Subcutaneous nodule; Urticaria; Vasculitis; Venous thrombosis; Visual impairment; VitiligoAutoimmune Disorders ; Bone Marrow Failure Syndromes
FASLG1q24.3100%gene with protein product134638APT1LG1, TNFSF6Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Chronic noninfectious lymphadenopathy; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Follicular hyperplasia; Hepatomegaly; Increased IgA level; Increased IgG level; Increased IgM level; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Platelet antibody positive; Reduced delayed hypersensitivity; Rheumatoid factor positive; Smooth muscle antibody positivity; Splenomegaly; Urticaria; VasculitisAutoimmune Disorders
FOXP3Xp11.23100%gene with protein product300292IPEXAutoimmune hemolytic anemia; Diarrhea; Eczema; Eosinophilia; Hypothyroidism; Ileus; Immune dysregulation; Lymphadenopathy; Thrombocytopenia; Type I diabetes mellitus; Variable expressivity; Villous atrophy; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
LRBA4q31.399.84%gene with protein product606453CDC4LArthritis; Asthma; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Bronchiectasis; Chronic diarrhea; Chronic lung disease; Clubbing of fingers; Colitis; Conjunctivitis; Failure to thrive; Gastritis; Growth delay; Hypothyroidism; IgA deficiency; IgM deficiency; Immunodeficiency; Lymphadenopathy; Pneumonia; Progressive; Recurrent otitis media; Recurrent sinusitis; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
NLRP117p1399.96%gene with protein product606636NALP1, SLEV1Antinuclear antibody positivity; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Corneal neovascularization; Dry skin; Ectodermal dysplasia; Epidermal acanthosis; Failure to thrive; Follicular hyperkeratosis; Growth delay; Hyperkeratosis; Increased IgA level; Keratoconjunctivitis sicca; Palmoplantar keratoderma; Parakeratosis; Photophobia; Polyarticular arthritis; Punctate keratitis; Splenomegaly; Squamous cell carcinoma; Thyroiditis; UveitisAutoimmune Disorders ; Palmoplantar keratoderma plus congenital ichthyosis
PNP14q11.2100%gene with protein product164050NPAbnormality of B cell physiology; Ataxia; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral vasculitis; Failure to thrive; Generalized hypotonia; Hypouricemia; Impaired T cell function; Intellectual disability; Lymph node hypoplasia; Lymphoma; Lymphopenia; Motor delay; Otitis media; Pneumonia; Recurrent bacterial infections; Recurrent lower respiratory tract infections; Recurrent opportunistic infections; Recurrent upper respiratory tract infections; Recurrent urinary tract infections; Recurrent viral infections; Sinusitis; Spastic diplegia; Splenomegaly; Tetraparesis; TremorAutoimmune Disorders ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency; Rhabdomyolysis
RAG111p12100%gene with protein product179615Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Interstitial pneumonitis; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Sepsis; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STAT12q32.2100%gene with protein product600555Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Carotid artery dilatation; Chronic mucocutaneous candidiasis; Delayed puberty; Delayed skeletal maturation; Diarrhea; Dilatation of the cerebral artery; Eczema; Enterocolitis; Functional abnormality of the bladder; Generalized osteoporosis; Hepatosplenomegaly; Herpes simplex encephalitis; Immune dysregulation; Immunodeficiency; Incomplete penetrance; Lymphopenia; Osteopenia; Phenotypic variability; Primary hypothyroidism; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Renal artery stenosis; Renovascular hypertension; Short stature; Susceptibility to herpesvirus; Thyroiditis; Type I diabetes mellitus; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
TPP213q33.199.98%gene with protein product190470Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Hemiparesis; Hepatitis; Lymphadenopathy; Lymphopenia; Moderate global developmental delay; Recurrent otitis media; Respiratory tract infection; Splenomegaly; Stroke; Systemic lupus erythematosusAutoimmune Disorders


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


  SUGGESTED CUSTOM SLICES  

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

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