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Phenotypes
Diarrhea

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB112q31.1100%gene with protein product603201BSEP, PFIC2Autosomal recessive inheritance; Cholelithiasis; Cirrhosis; Conjugated hyperbilirubinemia; Death in childhood; Diarrhea; Elevated alkaline phosphatase; Failure to thrive; Fat malabsorption; Hepatocellular carcinoma; Hepatomegaly; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Jaundice; Pruritus; Short stature; Splenomegaly
ABCB47q21.12100%gene with protein product171060PGY3, MDR3Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Cholangitis; Cholecystitis; Cholelithiasis; Cholesterol gallstones; Cirrhosis; Diarrhea; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fetal distress; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Increased serum bile acid concentration during pregnancy; Infantile onset; Intrahepatic cholestasis; Jaundice; Malabsorption; Pancreatitis; Portal fibrosis; Premature birth; Pruritus; Splenomegaly
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ACSF316q24.3100%gene with protein product614245Autosomal recessive inheritance; Dehydration; Diarrhea; Failure to thrive; Generalized clonic seizures; Global developmental delay; Ketoacidosis; Methylmalonic aciduria; Vomiting
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
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
AGA4q34.399.92%gene with protein product613228Abnormal cortical bone morphology; Abnormality of amino acid metabolism; Abnormality of metabolism/homeostasis; Abnormality of the ulna; Acne; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Anteverted nares; Aspartylglucosaminuria; Autosomal recessive inheritance; Beaking of vertebral bodies; Brachycephaly; Broad face; Carious teeth; Cataract; Cerebral atrophy; Coarse facial features; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diarrhea; Dyskinesia; Dysostosis multiplex; Generalized hypotonia; Gingival overgrowth; Hepatomegaly; Hernia; Hoarse voice; Hypertelorism; Hypoplastic frontal sinuses; Intellectual disability; Joint laxity; Kyphosis; Large face; Macroglossia; Macroorchidism; Mandibular prognathia; Microcephaly; Microtia; Mitral regurgitation; Neurological speech impairment; Neutropenia; Pathologic fracture; Pectus carinatum; Platyspondyly; Recurrent respiratory infections; Scoliosis; Seizures; Short nose; Short stature; Spasticity; Spondylolisthesis; Spondylolysis; Thick lower lip vermilion; Thick vermilion border; Thickened calvaria; Umbilical hernia; Vacuolated lymphocytes; Wide mouth; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
AIRE21q22.399.93%gene with protein product607358APECEDAbnormality of calcium-phosphate metabolism; Abnormality of the cerebral vasculature; Abnormality of the fingernails; Adrenal hyperplasia; Alopecia; Anemia; Asplenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Cholelithiasis; Chronic active hepatitis; Chronic atrophic gastritis; Chronic mucocutaneous candidiasis; Constriction of peripheral visual field; Decreased circulating aldosterone level; Diabetes mellitus; Diarrhea; Female hypogonadism; Hypoparathyroidism; Hypoplasia of dental enamel; Increased circulating cortisol level; Juvenile onset; Keratoconjunctivitis; Malabsorption; Opacification of the corneal stroma; Photophobia; Pigmentary retinopathy; Reduced visual acuity; Type I diabetes mellitus; Visual impairment; VitiligoAutoimmune Disorders ; Primary Immunodeficiency
AK21p35.1100%gene with protein product103020Abnormality of mitochondrial metabolism; Abnormality of neutrophils; Anemia; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Cellular immunodeficiency; Chronic otitis media; Combined immunodeficiency; Congenital agranulocytosis; Decreased antibody level in blood; Diarrhea; Failure to thrive; Fever; Hearing impairment; Hypoplasia of the thymus; Impaired T cell function; Lack of T cell function; Leukopenia; Lymphopenia; Malabsorption; Recurrent respiratory infections; Sepsis; Severe combined immunodeficiency; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
AKR1D17q33100%gene with protein product604741SRD5B1Abnormal bleeding; Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Chronic hepatic failure; Cirrhosis; Diarrhea; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Intrahepatic cholestasis; Jaundice; Malabsorption; Neonatal cholestatic liver disease; Neonatal onset; Splenomegaly; Steatorrhea
ALAD9q32100%gene with protein product125270Abdominal colic; Abdominal pain; Autosomal recessive inheritance; Constipation; Diarrhea; Elevated urinary delta-aminolevulinic acid; Failure to thrive; Generalized hypotonia; Hemolytic anemia; Paresthesia; Polyneuropathy; Psychosis; Respiratory paralysis; Very rare; Vomiting
ALG33q27.1100%gene with protein product608750Abnormality of vision; Adducted thumb; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Bulbous nose; Cerebellar atrophy; Cerebral atrophy; Clinodactyly of the 5th toe; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Food intolerance; Global developmental delay; High palate; Hyperreflexia; Hypertonia; Hypsarrhythmia; Iris coloboma; Joint contracture of the hand; Long fingers; Macrotia; Microcephaly; Muscular hypotonia; Muscular hypotonia of the trunk; Nail dysplasia; Optic atrophy; Seizures; Severe visual impairment; Small nail; Strabismus; Talipes equinovarus; Type I transferrin isoform profile; Villous atrophy; Vomiting; Wide nasal bridge
ANTXR24q21.21100%gene with protein product608041Abnormal diaphysis morphology; Abnormality of dental morphology; Abnormality of the adrenal glands; Abnormality of the hair; Abnormality of the skull; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Brachydactyly; Camptodactyly of finger; Chronic diarrhea; Coarse facial features; Death in infancy; Diarrhea; Failure to thrive; Feeding difficulties; Gingival fibromatosis; Gingival overgrowth; Hyperpigmentation of the skin; Immunodeficiency; Joint stiffness; Lymphedema; Macrocephaly; Micromelia; Muscular hypotonia; Osteolysis; Osteomalacia; Osteopenia; Osteoporosis; Papule; Polycystic ovaries; Progressive; Progressive flexion contractures; Recurrent bacterial infections; Recurrent fractures; Recurrent infections; Severe short stature; Short neck; Short palm; Skin ulcer; Steatorrhea; Subcutaneous nodule; Telangiectasia of the skin; Thickened skin; Urticaria; Variable expressivity
AP1S17q22.1100%gene with protein product603531CLAPS1, EKV3Abnormal intestine morphology; Autosomal recessive inheritance; Cholestasis; Cirrhosis; Congenital onset; Decreased serum ceruloplasmin; Diarrhea; Erythema; Generalized hypotonia; Global developmental delay; Growth delay; Hearing impairment; Hepatic fibrosis; High forehead; Hyperkeratosis; Hypocupremia; Ichthyosis; Intellectual disability; Intrahepatic cholestasis; Peripheral neuropathy; Upslanted palpebral fissurePalmoplantar keratoderma plus congenital ichthyosis
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ATP8B118q21.31100%gene with protein product602397FIC1, BRIC, PFIC1Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cirrhosis; Conjugated hyperbilirubinemia; Diarrhea; Failure to thrive; Fat malabsorption; Fetal distress; Hearing impairment; Hepatomegaly; Increased serum bile acid concentration; Increased serum bile acid concentration during pregnancy; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Intrahepatic cholestasis with episodic jaundice; Jaundice; Pancreatitis; Premature birth; Pruritus; Severe short stature; Splenomegaly
AVP20p13100%gene with protein product192340ARVPAbnormality of metabolism/homeostasis; Autosomal dominant inheritance; Central diabetes insipidus; Diabetes insipidus; Diarrhea; Fever; Gliosis; Growth delay; Hypertelorism; Irritability; Lethargy; Long philtrum; Osteopenia; Polydipsia; Short nose; Vomiting; Weight loss; Wide nose
BLM15q26.199.99%gene with protein product604610Abnormality of chromosome stability; Agenesis of maxillary lateral incisor; Autosomal recessive inheritance; Azoospermia; Bronchiectasis; Cafe-au-lait spot; Chromosome breakage; Chronic lung disease; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Decreased fertility in females; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Erythema; Facial telangiectasia in butterfly midface distribution; Hand polydactyly; High pitched voice; Hypertrichosis; Hypoplasia of the zygomatic bone; IgA deficiency; IgG deficiency; IgM deficiency; Intrauterine growth retardation; Leukemia; Lymphoma; Malar flattening; Microcephaly; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Recurrent respiratory infections; Short nose; Short stature; Sinusitis; Specific learning disability; Spotty hyperpigmentation; Spotty hypopigmentation; Squamous cell carcinoma; Syndactyly; Type II diabetes mellitusBone Marrow Failure Syndromes ; Primary Immunodeficiency
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
BTD3p25.1100%gene with protein product609019Alopecia; Apnea; Ataxia; Autosomal recessive inheritance; Conjunctivitis; Desquamation of skin soon after birth; Diarrhea; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperammonemia; Keratoconjunctivitis; Lethargy; Metabolic ketoacidosis; Muscular hypotonia; Optic atrophy; Organic aciduria; Perioral eczema; Recurrent skin infections; Seborrheic dermatitis; Seizures; Sensorineural hearing impairment; Skin rash; Splenomegaly; Tachypnea; Visual loss; Vomiting
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
CD1916p11.2100%gene with protein product107265Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CD3D11q23.3100%gene with protein product186790T3DAutosomal recessive inheritance; Diarrhea; Failure to thrive; Immunodeficiency; Infantile onset; Lymphopenia; Recurrent otitis media; Recurrent respiratory infectionsPrimary Immunodeficiency
CD40LGXq26.399.75%gene with protein product300386HIGM1, IMD3, TNFSF5Absence of lymph node germinal center; Chronic hepatitis; Decreased T cell activation; Diarrhea; Dysgammaglobulinemia; Enlarged tonsils; Gingivitis; Hemolytic anemia; Hepatitis; Hepatomegaly; IgA deficiency; IgE deficiency; IgG deficiency; Immunodeficiency; Impaired Ig class switch recombination; Impaired memory B cell generation; Increased IgM level; Neutropenia; Recurrent bacterial infections; Splenomegaly; Stomatitis; Thrombocytopenia; X-linked recessive inheritanceAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
CD551q32.2100%gene with protein product125240DAFAbdominal pain; Abnormal intestine morphology; Ascites; Autosomal recessive inheritance; Budd-Chiari syndrome; Clubbing; Diarrhea; Edema; Growth delay; Hypoproteinemia; Iron deficiency anemiaInflammatory Bowel Disease
CD79A19q13.299.5%gene with protein product112205IGAAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
CD79A19q13.299.5%gene with protein product112205IGAAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CDKN1A6p21.2100%gene with protein product116899CDKN1Adrenocortical adenoma; Angiofibromas; Diarrhea; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Growth hormone excess; Hypercalcemia; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Insulinoma; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary growth hormone cell adenoma; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Subcutaneous lipoma; Thyroid adenoma; Zollinger-Ellison syndrome
CDKN1B12p13.1100%gene with protein product600778Adrenocortical adenoma; Angiofibromas; Autosomal dominant inheritance; Carcinoid tumor; Diarrhea; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Growth hormone excess; Hypercalcemia; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Insulinoma; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Pulmonary carcinoid tumor; Renal angiomyolipoma; Subcutaneous lipoma; Thyroid adenoma; Zollinger-Ellison syndrome
CDKN1B12p13.1100%gene with protein product600778Adrenocortical adenoma; Angiofibromas; Autosomal dominant inheritance; Carcinoid tumor; Diarrhea; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Growth hormone excess; Hypercalcemia; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Insulinoma; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Pulmonary carcinoid tumor; Renal angiomyolipoma; Subcutaneous lipoma; Thyroid adenoma; Zollinger-Ellison syndrome
CDKN2B9p21.3100%gene with protein product600431Abnormality of the hair; Abnormality of the lymphatic system; Adrenocortical adenoma; Angiofibromas; Diarrhea; Dry skin; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Freckling; Growth hormone excess; Hypercalcemia; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Insulinoma; Melanoma; Nevus; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary growth hormone cell adenoma; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Subcutaneous lipoma; Thyroid adenoma; Zollinger-Ellison syndrome
CDKN2C1p32.3100%gene with protein product603369Adrenocortical adenoma; Angiofibromas; Diarrhea; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Growth hormone excess; Hypercalcemia; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Insulinoma; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary growth hormone cell adenoma; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Subcutaneous lipoma; Thyroid adenoma; Zollinger-Ellison syndrome
CPOX3q11.2100%gene with protein product612732CPOAbdominal pain; Abnormal blistering of the skin; Abnormality of metabolism/homeostasis; Acute episodes of neuropathic symptoms; Anxiety; Autosomal dominant inheritance; Confusion; Congenital hemolytic anemia; Constipation; Cutaneous photosensitivity; Depressivity; Diarrhea; Hallucinations; Hepatomegaly; Hypermelanotic macule; Hypertension; Incomplete penetrance; Insomnia; Irritability; Jaundice; Myalgia; Nausea and vomiting; Paranoia; Peripheral neuropathy; Respiratory paralysis; Splenomegaly; Tachycardia; Thin skin; Vomiting
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CR21q32.2100%gene with protein product120650Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Disorders of Sex Development
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
CYP27A12q35100%gene with protein product606530CYP27Abnormal pyramidal signs; Abnormality of central somatosensory evoked potentials; Abnormality of cholesterol metabolism; Abnormality of extrapyramidal motor function; Abnormality of the dentate nucleus; Abnormality of the periventricular white matter; Abnormality of vision; Angina pectoris; Ataxia; Atherosclerosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholelithiasis; Delusions; Dementia; Depressivity; Developmental regression; Diarrhea; Dystonia; EEG with generalized slow activity; EMG: axonal abnormality; Hallucinations; Hypercholesterolemia; Hyperreflexia; Intellectual disability; Muscle weakness; Myocardial infarction; Myoclonus; Neurological speech impairment; Optic disc pallor; Osteoporosis; Peripheral neuropathy; Pseudobulbar paralysis; Respiratory insufficiency; Seizures; Spasticity; Tendon xanthomatosis; Tremor; Xanthelasma
CYP7B18q12.3100%gene with protein product603711SPG5AAbnormality of coagulation; Abnormality of the cerebral white matter; Abnormality of the coagulation cascade; Abnormality of the urinary system; Acholic stools; Ankle clonus; Autosomal recessive inheritance; Babinski sign; Biliary tract abnormality; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Dysarthria; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Hepatic failure; Hepatitis; Hepatomegaly; Hyperreflexia; Impaired distal proprioception; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Intrahepatic cholestasis; Jaundice; Lower limb amyotrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal cholestatic liver disease; Neonatal onset; Optic atrophy; Paraplegia; Pes cavus; Progressive; Pruritus; Spastic gait; Spastic paraplegia; Splenomegaly; Steatorrhea; Urinary incontinence
DCLRE1C10p13100%gene with protein product605988SCIDAAbnormal lymphocyte morphology; Absent tonsils; Alopecia; Anemia; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Genital ulcers; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; Lymph node hypoplasia; Lymphadenopathy; Oral ulcer; Otitis media; Panhypogammaglobulinemia; Phenotypic variability; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent upper respiratory tract infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaInflammatory Bowel Disease ; Primary Immunodeficiency
DCLRE1C10p13100%gene with protein product605988SCIDAAbnormal lymphocyte morphology; Absent tonsils; Alopecia; Anemia; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Genital ulcers; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; Lymph node hypoplasia; Lymphadenopathy; Oral ulcer; Otitis media; Panhypogammaglobulinemia; Phenotypic variability; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent upper respiratory tract infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaInflammatory Bowel Disease ; Primary Immunodeficiency
DDC7p12.2-p12.199.99%gene with protein product107930Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Constipation; Decreased CSF homovanillic acid; Diarrhea; Emotional lability; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Hyperhidrosis; Hyperreflexia; Hypotension; Infantile onset; Intermittent hypothermia; Irritability; Limb dystonia; Limb hypertonia; Miosis; Muscular hypotonia of the trunk; Myoclonus; Nasal obstruction; Ptosis; Sleep disturbance; Temperature instability
DES2q35100%gene with protein product125660Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Constipation; Diarrhea; Dilated cardiomyopathy; Distal muscle weakness; Elbow flexion contracture; EMG: myopathic abnormalities; Facial palsy; Foot dorsiflexor weakness; Hypertrophic cardiomyopathy; Hyporeflexia of lower limbs; Late-onset proximal muscle weakness; Muscular dystrophy; Neck muscle weakness; Peroneal muscle atrophy; Phenotypic variability; Progressive; Reduced systolic function; Respiratory insufficiency due to muscle weakness; Restrictive heart failure; Scapular winging; Scapuloperoneal weakness; Shoulder girdle muscle atrophy; Talipes equinovarus
DGAT18q24.3100%gene with protein product604900DGATAutosomal recessive inheritance; Diarrhea; Hypercholesterolemia; Hyperlipidemia; Hypoalbuminemia; Protein-losing enteropathy; VomitingInflammatory Bowel Disease
DNMT3B20q11.21100%gene with protein product602900Abnormality of chromosome stability; Abnormality of neutrophils; Anemia; Anteverted nares; Autosomal recessive inheritance; Bronchiectasis; Cellular immunodeficiency; Chronic bronchitis; Communicating hydrocephalus; Decrease in T cell count; Decreased antibody level in blood; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Flat face; Global developmental delay; Hypertelorism; Immunodeficiency; Intellectual disability; Low-set ears; Lymphopenia; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Micrognathia; Pneumonia; Protruding tongue; Recurrent respiratory infections; Short nose; Short stature; Sinusitis
ELP19q31.399.97%gene with protein product603722DYS, IKBKAPAbnormal pupil morphology; Abnormal renal physiology; Acrocyanosis; Alacrima; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Congenital onset; Constipation; Corneal erosion; Corneal ulceration; Decreased corneal reflex; Decreased number of large peripheral myelinated nerve fibers; Decreased sensitivity to hypoxemia; Decreased taste sensation; Diarrhea; Elevated serum creatinine; EMG abnormality; Emotional lability; Episodic fever; Episodic hyperhidrosis; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Glomerulosclerosis; Growth delay; Hyperhidrosis; Hypertension; Hypohidrosis; Hyporeflexia; Impaired pain sensation; Incoordination; Increased blood urea nitrogen; Malignant hyperthermia; Muscular hypotonia; Neuropathic arthropathy; Orthostatic hypotension; Progressive; Recurrent corneal erosions; Recurrent infections due to aspiration; Recurrent respiratory infections; Scoliosis; Tachycardia; Vomiting
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
GALT9p13.3100%gene with protein product606999Abnormal bleeding; Abnormality of the ovary; Aminoaciduria; Autosomal recessive inheritance; Cataract; Cirrhosis; Decreased fertility in females; Decreased liver function; Diarrhea; Failure to thrive; Feeding difficulties; Galactosuria; Hemolytic anemia; Hepatic failure; Hepatomegaly; Hyperchloremic metabolic acidosis; Hypergalactosemia; Hypergonadotropic hypogonadism; Hypoglycemia; Impairment of galactose metabolism; Increased level of galactitol in plasma; Increased level of galactitol in red blood cells; Increased level of galactitol in urine; Increased level of galactonate in red blood cells; Intellectual disability; Jaundice; Metabolic acidosis; Nausea and vomiting; Osteoporosis; Premature ovarian insufficiency; Speech apraxia; Speech articulation difficulties; Vomiting; Weight lossAutoimmune Disorders
GLAXq22.199.83%gene with protein product300644Abdominal pain; Abnormal aortic valve morphology; Abnormality of the hand; Abnormality of the renal tubule; Anemia; Angina pectoris; Angiokeratoma; Anorexia; Arrhythmia; Arthralgia; Arthritis; Atrioventricular block; Bundle branch block; Cataract; Coarse facial features; Cognitive impairment; Congestive heart failure; Conjunctival telangiectasia; Corneal dystrophy; Corneal opacity; Delayed puberty; Diarrhea; Dysautonomia; Emphysema; Fasciculations; Fatigue; Hematuria; Hyperkeratosis; Hyperlipidemia; Hypertension; Hypohidrosis; Juvenile onset; Left ventricular hypertrophy; Left ventricular septal hypertrophy; Lymphedema; Malabsorption; Mitral regurgitation; Muscle cramps; Myalgia; Myocardial infarction; Nausea; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Obstructive lung disease; Optic atrophy; Paresthesia; Proteinuria; Renal insufficiency; Seizures; Short stature; Subcutaneous nodule; Telangiectasia of the skin; Tenesmus; Thick lower lip vermilion; Transient ischemic attack; Vomiting; X-linked recessive inheritance
GNS12q14.399.7%gene with protein product607664Absent speech; Anteverted nares; Asymmetric septal hypertrophy; Autosomal recessive inheritance; Cellular metachromasia; Coarse facial features; Coarse hair; Depressed nasal bridge; Diarrhea; Drooling; Dysarthria; Dysostosis multiplex; Dysphagia; Flexion contracture; Frontal bossing; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Low-set ears; Ovoid thoracolumbar vertebrae; Progressive; Prominent forehead; Recurrent upper respiratory tract infections; Seizures; Short neck; Sleep disturbance; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thickened ribs; Wide mouth
GUCY2C12p12.399.92%gene with protein product601330GUC2CAutosomal dominant inheritance; Autosomal recessive inheritance; Diarrhea; Meconium ileus; MicrocolonInflammatory Bowel Disease
HADH4q25100%gene with protein product601609HADHSCAbnormality of acetylcarnitine metabolism; Autosomal recessive inheritance; Confusion; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Diarrhea; Dicarboxylic aciduria; Dilated cardiomyopathy; Elevated hepatic transaminases; Fasting hyperinsulinemia; Feeding difficulties in infancy; Fulminant hepatic failure; Generalized hypotonia; Growth delay; Hepatic necrosis; Hepatic steatosis; Heterogeneous; Hyperinsulinemic hypoglycemia; Hypertrophic cardiomyopathy; Hypoglycemic coma; Hypoglycemic encephalopathy; Hypoglycemic seizures; Hypoketotic hypoglycemia; Increased C-peptide level; Increased circulating free fatty acid level; Intellectual disability; Intrauterine growth retardation; Lethargy; Muscular hypotonia; Myoglobinuria; Neonatal hypoglycemia; Neonatal hypotonia; Phenotypic variability; Proportionate short stature; VomitingRhabdomyolysis
HGSNAT8p11.21-p11.99.95%gene with protein product610453TMEM76Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Asymmetric septal hypertrophy; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Cellular metachromasia; Coarse facial features; Coarse hair; Conductive hearing impairment; Constriction of peripheral visual field; Dense calvaria; Diarrhea; Dolichocephaly; Dysostosis multiplex; Dysphagia; Everted lower lip vermilion; Glaucoma; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hernia; Hirsutism; Hyperactivity; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Joint stiffness; Keratoconus; Kyphoscoliosis; Loss of speech; Motor delay; Motor deterioration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovoid thoracolumbar vertebrae; Photophobia; Progressive night blindness; Recurrent upper respiratory tract infections; Retinal atrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs; Variable expressivity; Wide nasal bridge
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HMBS11q23.3100%gene with protein product609806PBGD, UPS, PORCAbdominal pain; Abnormal urinary color; Acute episodes of neuropathic symptoms; Anorexia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Constipation; Depressivity; Diarrhea; Dysuria; Elevated urinary delta-aminolevulinic acid; Hepatocellular carcinoma; Hyperhidrosis; Hypertension; Hypertensive crisis; Insomnia; Muscle weakness; Myalgia; Nausea; Nausea and vomiting; Paralytic ileus; Paresthesia; Psychotic episodes; Respiratory paralysis; Seizures; Tachycardia; Urinary incontinence; Urinary retention; VomitingRhabdomyolysis
HMGCS21p12100%gene with protein product600234Autosomal recessive inheritance; Diarrhea; Hepatomegaly; Hypoglycemia; Seizures; Vomiting
HNF1A12q24.31100%gene with protein product142410MODY3, TCF1Abnormality of fatty-acid metabolism; Agitation; Autosomal dominant inheritance; Coma; Diarrhea; Drowsiness; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Hepatocellular adenoma; Hepatomegaly; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Infantile onset; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Neonatal hypoglycemia; Neonatal hypotonia; Pallor; Pancreatic islet-cell hyperplasia; Polycystic ovaries; Progressive neurologic deterioration; Renal cell carcinoma; Seizures; Sporadic; Tachycardia; Tremor; Type I diabetes mellitus; Type II diabetes mellitus; Vomiting
HNF4A20q13.12100%gene with protein product600281TCF14, MODY, MODY1Abnormality of fatty-acid metabolism; Agitation; Aminoaciduria; Autosomal dominant inheritance; Coma; Diabetes mellitus; Diarrhea; Drowsiness; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Glycosuria; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperphosphaturia; Hypoglycemia; Hypoketotic hypoglycemia; Hypophosphatemic rickets; Hypouricemia; Increased hepatic glycogen content; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Metabolic ketoacidosis; Multicystic kidney dysplasia; Neonatal hypoglycemia; Neonatal hypotonia; Nephrocalcinosis; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Proteinuria; Renal Fanconi syndrome; Rickets; Seizures; Short stature; Tachycardia; Tremor; Vomiting
HSD3B716p11.2100%gene with protein product607764Abnormality of coagulation; Abnormality of the coagulation cascade; Acholic stools; Autosomal recessive inheritance; Biliary tract abnormality; Cirrhosis; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypocholesterolemia; Intrahepatic cholestasis; Jaundice; Malabsorption; Neonatal cholestatic liver disease; Neonatal onset; Splenomegaly; Steatorrhea
ICOS2q33.2100%gene with protein product604558Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
ICOS2q33.2100%gene with protein product604558Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
IDSXq2899.74%gene with protein product300823SIDSAbnormal heart valve morphology; Abnormality of retinal pigmentation; Asthma; Cervical cord compression; Coarse facial features; Congestive heart failure; Delayed eruption of teeth; Dermatan sulfate excretion in urine; Diarrhea; Dysostosis multiplex; Flexion contracture; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hoarse voice; Hydrocephalus; Hypertrichosis; Inguinal hernia; Intellectual disability, profound; Intestinal pseudo-obstruction; Kyphosis; Macrocephaly; Macroglossia; Mild short stature; Neurodegeneration; Obstructive sleep apnea; Papilledema; Pes cavus; Ptosis; Recurrent otitis media; Scaphocephaly; Seizures; Severe short stature; Short neck; Short stature; Splenomegaly; Split hand; Thick lower lip vermilion; Tracheobronchomalacia; Umbilical hernia; Widely spaced teeth; X-linked recessive inheritance
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGLL122q11.23100%gene with protein product146770IGLLAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Meningitis; Osteomyelitis; Recurrent bacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
IKZF17p12.210.34%gene with protein productLow coverage on XomeDx platform 603023ZNFN1A1Abnormal blistering of the skin; Abnormality of neutrophils; Acantholysis; Autosomal dominant inheritance; B lymphocytopenia; Decreased antibody level in blood; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Incomplete penetrance; Macule; Nausea and vomiting; Recurrent bacterial infections; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency
IL7R5p13.2100%gene with protein product146661Abnormal lymphocyte morphology; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Eczema; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Pneumonia; Pruritus; Recurrent opportunistic infections; Severe combined immunodeficiency; Splenomegaly; Thickened skinPrimary Immunodeficiency
JAK319p13.1199.82%gene with protein product600173Abnormality of the lymph nodes; Autosomal recessive inheritance; Cutaneous anergy; Diarrhea; Failure to thrive; Intestinal obstruction; Meningitis; Panhypogammaglobulinemia; Pneumonia; Recurrent upper respiratory tract infections; Severe combined immunodeficiencyPrimary Immunodeficiency
KCNJ111q24.3100%gene with protein product600359Abnormally large globe; Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Frontal bossing; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hyposthenuria; Impaired platelet aggregation; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Macrocephaly; Macrotia; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polydipsia; Polyhydramnios; Polyuria; Premature birth; Prominent forehead; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Triangular face; Vomiting
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
LCK1p35.2100%gene with protein product153390Autoimmunity; Autosomal recessive inheritance; Diarrhea; Failure to thrive; Immunodeficiency; Infantile onset; Panniculitis; Recurrent respiratory infections
LCT2q21.399.99%gene with protein product603202Autosomal recessive inheritance; Decreased small intestinal mucosa lactase activity; Dehydration; Diarrhea; Lactose intolerance; Metabolic acidosisDisorders of Sex Development; Inflammatory Bowel Disease
LIPA10q23.3199.99%gene with protein product613497Abdominal distention; Adrenal calcification; Anemia; Arteriosclerosis; Ascites; Autosomal recessive inheritance; Bone-marrow foam cells; Cachexia; Cirrhosis; Death in infancy; Diarrhea; Esophageal varix; Failure to thrive; Global developmental delay; Growth delay; Hepatic failure; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hypercholesterolemia; Hypertriglyceridemia; Malnutrition; Nausea and vomiting; Protuberant abdomen; Pulmonary arterial hypertension; Splenomegaly; Steatorrhea; Vacuolated lymphocytes; Vomiting
LIPA10q23.3199.99%gene with protein product613497Abdominal distention; Adrenal calcification; Anemia; Arteriosclerosis; Ascites; Autosomal recessive inheritance; Bone-marrow foam cells; Cachexia; Cirrhosis; Death in infancy; Diarrhea; Esophageal varix; Failure to thrive; Global developmental delay; Growth delay; Hepatic failure; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hypercholesterolemia; Hypertriglyceridemia; Malnutrition; Nausea and vomiting; Protuberant abdomen; Pulmonary arterial hypertension; Splenomegaly; Steatorrhea; Vacuolated lymphocytes; Vomiting
LRRC8A9q34.11100%gene with protein product608360LRRC8Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Epicanthus; Failure to thrive; Fatigue; Fever; High palate; Hypertelorism; Immunodeficiency; Low-set ears; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
MCM62q21.3100%gene with protein product601806Abdominal pain; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased small intestinal mucosa lactase activity; Diarrhea; Lactose intolerance
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
MEN111q13100%gene with protein product613733Abnormality of hair density; Abnormality of the pancreatic islet cells; Abnormality of the thyroid gland; Adenoma sebaceum; Adrenocortical adenoma; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Angiofibromas; Autosomal dominant inheritance; Cafe-au-lait spot; Carcinoid tumor; Chondrocalcinosis; Confetti-like hypopigmented macules; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Diarrhea; Dyspareunia; Easy fatigability; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Fatigue; Female hypogonadism; Fluctuations in consciousness; Galactorrhea; Generalized muscle weakness; Generalized osteoporosis; Glucagonoma; Growth hormone excess; Gynecomastia; Headache; Hypercalcemia; Hypercalciuria; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Hyperphosphaturia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypophosphatemia; Hypotension; Impotence; Increased body weight; Increased circulating cortisol level; Infantile hypercalcemia; Insulinoma; Male hypogonadism; Nephrocalcinosis; Nonketotic hypoglycemia; Osteopenia; Osteoporosis; Pallor; Palpitations; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Polyphagia; Primary hyperparathyroidism; Progressive visual loss; Prolactinoma; Reactive hypoglycemia; Recurrent hypoglycemia; Secondary growth hormone deficiency; Seizures; Subcutaneous lipoma; Thyroid adenoma; Transient global amnesia; Tremor; Vomiting; Zollinger-Ellison syndromeEctodermal Dysplasia
MEN111q13100%gene with protein product613733Abnormality of hair density; Abnormality of the pancreatic islet cells; Abnormality of the thyroid gland; Adenoma sebaceum; Adrenocortical adenoma; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Angiofibromas; Autosomal dominant inheritance; Cafe-au-lait spot; Carcinoid tumor; Chondrocalcinosis; Confetti-like hypopigmented macules; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Diarrhea; Dyspareunia; Easy fatigability; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Fatigue; Female hypogonadism; Fluctuations in consciousness; Galactorrhea; Generalized muscle weakness; Generalized osteoporosis; Glucagonoma; Growth hormone excess; Gynecomastia; Headache; Hypercalcemia; Hypercalciuria; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Hyperphosphaturia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypophosphatemia; Hypotension; Impotence; Increased body weight; Increased circulating cortisol level; Infantile hypercalcemia; Insulinoma; Male hypogonadism; Nephrocalcinosis; Nonketotic hypoglycemia; Osteopenia; Osteoporosis; Pallor; Palpitations; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Polyphagia; Primary hyperparathyroidism; Progressive visual loss; Prolactinoma; Reactive hypoglycemia; Recurrent hypoglycemia; Secondary growth hormone deficiency; Seizures; Subcutaneous lipoma; Thyroid adenoma; Transient global amnesia; Tremor; Vomiting; Zollinger-Ellison syndromeEctodermal Dysplasia
MLYCD16q23.3100%gene with protein product606761Abdominal pain; Autosomal recessive inheritance; Chronic constipation; Diarrhea; Generalized hypotonia; Global developmental delay; Hypertrophic cardiomyopathy; Hypoglycemia; Ketosis; Lactic acidosis; Metabolic acidosis; Seizures; Short stature; Vomiting
MPI15q24.1100%gene with protein product154550Abnormal bleeding; Abnormal thrombosis; Autosomal recessive inheritance; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Failure to thrive; Generalized hypotonia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemic hypoglycemia; Hypoalbuminemia; Hypoglycemia; Lymphedema; Malabsorption; Protein-losing enteropathy; Reduced antithrombin III activity; Reduced factor XI activity; Type I transferrin isoform profile; Villous atrophy; Vomiting
MPV172p23.3100%gene with protein product137960Abnormality of the foot; Abnormality of the immune system; Acral ulceration and osteomyelitis leading to autoamputation of digits; Acute hepatic failure; Areflexia; Ataxia; Autosomal recessive inheritance; Cirrhosis; Decreased number of peripheral myelinated nerve fibers; Diarrhea; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypoglycemia; Hyporeflexia; Increased susceptibility to fractures; Infantile onset; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Nystagmus; Osteomyelitis leading to amputation due to slow healing fractures; Pain insensitivity; Painless fractures due to injury; Phenotypic variability; Progressive; Prolonged neonatal jaundice; Recurrent corneal erosions; Reye syndrome-like episodes; Sensorimotor neuropathy; Short stature; Vomiting
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MYO5B18q99.98%gene with protein product606540Abdominal distention; Abnormal renal physiology; Autosomal recessive inheritance; Death in infancy; Dehydration; Diarrhea; Global developmental delay; Growth delay; Hypovolemia; Malnutrition; Metabolic acidosis; Nephrocalcinosis; Protracted diarrhea; Pruritus; Villous atrophyInflammatory Bowel Disease
NAGLU17q21.2100%gene with protein product609701Aggressive behavior; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Coarse facial features; Coarse hair; Dense calvaria; Diarrhea; Distal sensory impairment; Dysostosis multiplex; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Hyporeflexia; Intellectual disability; Joint stiffness; Juvenile onset; Ovoid thoracolumbar vertebrae; Progressive; Progressive neurologic deterioration; Recurrent upper respiratory tract infections; Seizures; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs
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
NCF422q12.399.91%gene with protein product601488Abnormality of neutrophils; Autosomal recessive inheritance; Chronic obstructive pulmonary disease; Cutaneous photosensitivity; Diarrhea; Fever; Hepatomegaly; Hypermelanotic macule; Malabsorption; Mediastinal lymphadenopathy; Otitis media; Perioral eczema; Pyloric stenosis; Recurrent aphthous stomatitis; Recurrent respiratory infections; Recurrent sinusitis; Sinusitis; Tracheoesophageal fistulaAutoimmune Disorders ; Inflammatory Bowel Disease
NEUROG310q22.1100%gene with protein product604882Abnormal cellular phenotype; Autosomal recessive inheritance; Cholestatic liver disease; Dehydration; Diarrhea; Failure to thrive; Hyperchloremic metabolic acidosis; Malabsorption; Neonatal onset; Portal hypertension; Type I diabetes mellitus; VomitingInflammatory Bowel Disease
NEUROG310q22.1100%gene with protein product604882Abnormal cellular phenotype; Autosomal recessive inheritance; Cholestatic liver disease; Dehydration; Diarrhea; Failure to thrive; Hyperchloremic metabolic acidosis; Malabsorption; Neonatal onset; Portal hypertension; Type I diabetes mellitus; VomitingInflammatory Bowel Disease
NME117q21.33100%gene with protein product156490Abdominal pain; Abnormality of the thorax; Anemia; Ataxia; Autosomal dominant inheritance; Bone pain; Diarrhea; Elevated urinary dopamine; Elevated urinary homovanillic acid; Elevated urinary vanillylmandelic acid; Failure to thrive; Fever; Ganglioneuroblastoma; Ganglioneuroma; Heterogeneous; Horner syndrome; Hypertension; Incomplete penetrance; Myoclonus; Neuroblastoma; Opsoclonus; Skin nodule; Spinal cord compression; Sporadic; Weight loss
NR3C24q3199.95%gene with protein product600983MLRAutosomal dominant inheritance; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Infantile onset; Maternal hypertension; Metabolic acidosis; Phenotypic variability; Pseudohypoaldosteronism; Vomiting
OPLAH8q24.399.93%gene with protein product6142435-oxoprolinase deficiency; Abdominal pain; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcium oxalate nephrolithiasis; Diarrhea; Enterocolitis; Increased level of L-pyroglutamic acid in urine; Prolinuria; Vomiting
PCSK15q1599.95%gene with protein product162150NEC1Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Decreased circulating cortisol level; Diarrhea; Hypogonadotrophic hypogonadism; Hypopigmentation of the skin; Increased adipose tissue; Malabsorption; Obesity; Phenotypic variability; Polyphagia; Primary amenorrhea; Reactive hypoglycemia; Red hair; Sporadic; Villous atrophyObesity
PHKB16q12.199.88%gene with protein product172490Autosomal recessive inheritance; Diarrhea; Generalized hypotonia; Hepatomegaly; Increased hepatic glycogen content; Increased muscle glycogen content; Muscle weakness; Muscular hypotonia; Short statureRhabdomyolysis
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PMM216p13.2100%gene with protein product601785CDG1Abnormal subcutaneous fat tissue distribution; Abnormality of the amniotic fluid; Ataxia; Autosomal recessive inheritance; Cardiomyopathy; Depressed nasal bridge; Diarrhea; Elevated hepatic transaminases; Esotropia; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hypoalbuminemia; Hypocholesterolemia; Hyporeflexia; Hypothyroidism; IgA deficiency; IgG deficiency; Inverted nipples; Kyphosis; Macrotia; Microcephaly; Muscle weakness; Nephrotic syndrome; Nonimmune hydrops fetalis; Nystagmus; Olivopontocerebellar hypoplasia; Osteopenia; Pericardial effusion; Polyneuropathy; Premature ovarian insufficiency; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Proteinuria; Proximal tubulopathy; Reduced antithrombin III activity; Reduced factor XI activity; Renal cyst; Rod-cone dystrophy; Seizures; Stroke-like episode; Thin upper lip vermilion; Thrombocytosis; Type I transferrin isoform profile; Vomiting
POLA1Xp22.11-p21.98.96%gene with protein product312040POLA, NSXAbnormality of chromosome stability; Abnormality of metabolism/homeostasis; Amyloidosis; Broad eyebrow; Colitis; Corneal scarring; Cryptorchidism; Diarrhea; Failure to thrive in infancy; Generalized reticulate brown pigmentation; Global developmental delay; Hearing impairment; Hemiplegia; Hyperkeratosis; Hypohidrosis; Hypospadias; Inguinal hernia; Intellectual disability; Leukemia; Neoplasm; Opacification of the corneal stroma; Photophobia; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Seizures; Spasticity; Urethral stricture; Visual impairment; Visual loss; X-linked inheritance; X-linked recessive inheritance
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
PTPRC1q31.3-q32.198.8%gene with protein product151460CD45Autosomal recessive inheritance; Decrease in T cell count; Diarrhea; Eczema; Failure to thrive secondary to recurrent infections; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Recurrent opportunistic infections; Severe combined immunodeficiency; SplenomegalyAutoimmune Disorders ; Primary Immunodeficiency
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
RAG111p12100%gene with protein product179615Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Interstitial pneumonitis; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Sepsis; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RAG211p13100%gene with protein product179616Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RAG211p13100%gene with protein product179616Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RECQL48q24.399.97%gene with protein product603780Abnormal heart morphology; Abnormal vertebral morphology; Abnormality of the carpal bones; Abnormality of the kidney; Abnormality of the metacarpal bones; Abnormality of the nail; Absent eyebrow; Absent eyelashes; Absent radius; Absent thumb; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Anal atresia; Annular pancreas; Anomalous splenoportal venous system; Anteriorly placed anus; Aphalangy of the hands; Aplasia of metacarpal bones; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Autosomal recessive inheritance; Basal cell carcinoma; Bicoronal synostosis; Bifid uvula; Blepharophimosis; Bowing of the long bones; Brachyturricephaly; Brittle hair; Carpal bone aplasia; Carpal synostosis; Cataract; Choanal stenosis; Cleft palate; Concave nasal ridge; Conductive hearing impairment; Coronal craniosynostosis; Cryptorchidism; Cutaneous photosensitivity; Delayed eruption of teeth; Dermal atrophy; Diarrhea; Downslanted palpebral fissures; Epicanthus; Failure to thrive in infancy; Flat forehead; Forearm reduction defects; Frontal bossing; Glaucoma; Growth delay; Hand oligodactyly; Hearing impairment; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the radius; Hypoplasia of the ulna; Hypotrichosis; Increased number of teeth; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Juvenile zonular cataracts; Lambdoidal craniosynostosis; Large fontanelles; Limited elbow movement; Limited shoulder movement; Long face; Low-set, posteriorly rotated ears; Malabsorption; Mandibular prognathia; Microcornea; Microdontia; Micrognathia; Microphthalmia; Midface capillary hemangioma; Mottled pigmentation; Myopia; Nail dystrophy; Narrow mouth; Optic atrophy; Osteoporosis; Osteosarcoma; Palmoplantar keratoderma; Patellar hypoplasia; Perineal fistula; Poikiloderma; Polymicrogyria; Premature graying of hair; Prematurely aged appearance; Prominent nasal bridge; Proptosis; Rectovaginal fistula; Rib fusion; Sagittal craniosynostosis; Scoliosis; Seizures; Short chin; Short foot; Short humerus; Short nose; Short palm; Short stature; Short thumb; Skeletal dysplasia; Slender nose; Small hand; Sparse hair; Spina bifida occulta; Squamous cell carcinoma; Stiff interphalangeal joints; Strabismus; Talipes equinovarus; Telangiectasia; Ulnar bowing; Underdeveloped nasal alaeVACTERL Association
RET10q11.21100%gene with protein product164761HSCR1, MEN2A, MTC1, MEN2BAbdominal pain; Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the foot; Abnormality of the integument; Abnormality of the mouth; Abnormality of the sacrum; Abnormality of the skin; Adrenal pheochromocytoma; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Breathing dysregulation; Cafe-au-lait spot; Central hypoventilation; Central sleep apnea; Cerebral hemorrhage; Chest pain; Colonic diverticula; Congenital cataract; Congenital onset; Congestive heart failure; Constipation; Death in infancy; Depressed nasal ridge; Diarrhea; Disproportionate tall stature; Downslanted palpebral fissures; Dysautonomia; Dysphonia; Elevated calcitonin; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epicanthus; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Fetal polyuria; Flushing; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hemangioma; High, narrow palate; Hypercalcemia; Hyperhidrosis; Hyperlordosis; Hyperparathyroidism; Hypertelorism; Hypertension; Hypertensive retinopathy; Increased circulating cortisol level; Intellectual disability; Intestinal obstruction; Joint laxity; Kyphosis; Low-set ears; Medullary thyroid carcinoma; Muscular hypotonia; Myopathy; Nausea; Nausea and vomiting; Neoplasm; Nodular goiter; Nonketotic hypoglycemia; Oligohydramnios; Palpitations; Paraganglioma of head and neck; Parathyroid adenoma; Parathyroid hyperplasia; Paroxysmal vertigo; Pectus excavatum; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Posteriorly rotated ears; Potter facies; Primary amenorrhea; Proteinuria; Proximal femoral epiphysiolysis; Pulmonary hypoplasia; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal agenesis; Renal artery stenosis; Renal dysplasia; Retrognathia; Scoliosis; Seizures; Sinus tachycardia; Small for gestational age; Strabismus; Tachycardia; Talipes equinovarus; Thick eyebrow; Thick lower lip vermilion; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresia; Weight lossCongenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease
RFX66q22.199.63%gene with protein product612659RFXDC1Absent gallbladder; Acholic stools; Autosomal recessive inheritance; Biliary atresia; Diarrhea; Duodenal atresia; Hyperbilirubinemia; Hyperglycemia; Intestinal malrotation; Intrauterine growth retardation; Jejunal atresia; Malabsorption; Pancreatic hypoplasia
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
SAR1B5q31.199.99%gene with protein product607690SARA2Abdominal distention; Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of vitamin metabolism; Autosomal recessive inheritance; Decreased circulating low-density lipoprotein levels; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Growth delay; Hypoalbuminemia; Hypocholesterolemia; Impaired vibratory sensation; Increased hepatocellular lipid droplets; Infantile onset; Intellectual disability; Malnutrition; Reduced tendon reflexes; Retinopathy; Steatorrhea; Vomiting
SAR1B5q31.199.99%gene with protein product607690SARA2Abdominal distention; Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of vitamin metabolism; Autosomal recessive inheritance; Decreased circulating low-density lipoprotein levels; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Growth delay; Hypoalbuminemia; Hypocholesterolemia; Impaired vibratory sensation; Increased hepatocellular lipid droplets; Infantile onset; Intellectual disability; Malnutrition; Reduced tendon reflexes; Retinopathy; Steatorrhea; Vomiting
SCN11A3p22.299.95%gene with protein product604385SCN12AAutosomal dominant inheritance; Constipation; Diarrhea; Dysautonomia; Hyperhidrosis; Motor delay; Muscle weakness; Pain; Pain insensitivity; Pruritus; Seizures
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SCNN1A12p13100%gene with protein product600228SCNN1Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal salt wasting; Vomiting
SCNN1B16p12.2-p12.100%gene with protein product600760Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SCNN1G16p12.2100%gene with protein product600761Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SERPING111q12.1100%gene with protein product606860C1NHAbdominal pain; Abnormality of salivation; Abnormality of the larynx; Angioedema; Autoimmunity; Autosomal dominant inheritance; Dermatographic urticaria; Diarrhea; Dysphagia; Edema of the dorsum of hands; Erythema; Facial edema; Intestinal edema; Laryngeal edema; Limbal edema; Nausea; Paresthesia; Peripheral axonal neuropathy; Pharyngeal edema; Systemic lupus erythematosus; Tongue edema; VomitingPrimary Immunodeficiency
SERPING111q12.1100%gene with protein product606860C1NHAbdominal pain; Abnormality of salivation; Abnormality of the larynx; Angioedema; Autoimmunity; Autosomal dominant inheritance; Dermatographic urticaria; Diarrhea; Dysphagia; Edema of the dorsum of hands; Erythema; Facial edema; Intestinal edema; Laryngeal edema; Limbal edema; Nausea; Paresthesia; Peripheral axonal neuropathy; Pharyngeal edema; Systemic lupus erythematosus; Tongue edema; VomitingPrimary Immunodeficiency
SGSH17q25.3100%gene with protein product605270Asymmetric septal hypertrophy; Autosomal recessive inheritance; Coarse facial features; Coarse hair; Dense calvaria; Diarrhea; Dysostosis multiplex; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Ovoid thoracolumbar vertebrae; Recurrent upper respiratory tract infections; Seizures; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs
SI3q26.198.87%gene with protein product609845Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Diarrhea; Malabsorption; NephrolithiasisAutoimmune Disorders ; Congenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease ; Obesity; Rhabdomyolysis
SKIV2L6p21.33100%gene with protein product600478SKIV2Autosomal recessive inheritance; Brittle hair; Cirrhosis; Colitis; Diarrhea; Failure to thrive; Hepatitis; Hepatomegaly; Hypertelorism; Immunodeficiency; Intrauterine growth retardation; Pili canaliculi; Prominent forehead; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Uncombable hair; Villous atrophy; Wide nose; Woolly hairInflammatory Bowel Disease
SLC12A115q21.1100%gene with protein product600839Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalcemia; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hypomagnesemia; Hyposthenuria; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polyhydramnios; Polyuria; Premature birth; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Vomiting
SLC19A21q24.2100%gene with protein product603941TRMAAbnormality of the skin; Aminoaciduria; Anorexia; Arrhythmia; Atrial septal defect; Autosomal recessive inheritance; Cone/cone-rod dystrophy; Diabetes mellitus; Diarrhea; Headache; Hoarse voice; Lethargy; Megaloblastic anemia; Nystagmus; Optic atrophy; Pallor; Paresthesia; Retinal degeneration; Sensorineural hearing impairment; Short stature; Sideroblastic anemia; Thiamine-responsive megaloblastic anemia; Thrombocytopenia; Ventricular septal defect; Visual lossAplastic Anemia ; Bone Marrow Failure Syndromes
SLC26A37q22.3-q31.1100%gene with protein product126650DRA, CLDAbdominal distention; Abnormality of the cardiovascular system; Autosomal recessive inheritance; Dehydration; Diarrhea; Failure to thrive; Growth delay; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypochloremia; Hypokalemia; Hyponatremia; Metabolic alkalosis; Polyhydramnios; Premature birthInflammatory Bowel Disease
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
SLC46A117q11.2100%gene with protein product611672Abnormality of movement; Anorexia; Ataxia; Athetosis; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Cheilitis; Decreased antibody level in blood; Diarrhea; Dyskinesia; Failure to thrive; Feeding difficulties in infancy; Folate-responsive megaloblastic anemia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glossitis; Infantile onset; Intellectual disability; Irritability; Leukopenia; Malabsorption; Megaloblastic anemia; Nausea and vomiting; Neutropenia; Oral ulcer; Pallor; Peripheral neuropathy; Recurrent infections; Seizures; Thrombocytopenia
SLC46A117q11.2100%gene with protein product611672Abnormality of movement; Anorexia; Ataxia; Athetosis; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Cheilitis; Decreased antibody level in blood; Diarrhea; Dyskinesia; Failure to thrive; Feeding difficulties in infancy; Folate-responsive megaloblastic anemia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glossitis; Infantile onset; Intellectual disability; Irritability; Leukopenia; Malabsorption; Megaloblastic anemia; Nausea and vomiting; Neutropenia; Oral ulcer; Pallor; Peripheral neuropathy; Recurrent infections; Seizures; Thrombocytopenia
SLC7A714q11.2100%gene with protein product603593LPIAlveolar proteinosis; Aminoaciduria; Anemia; Autosomal recessive inheritance; Cutis laxa; Delayed skeletal maturation; Diarrhea; Failure to thrive; Fine hair; Generalized hypotonia; Hemophagocytosis; Hepatomegaly; Hyperammonemia; Hyperextensible skin; Increased serum ferritin; Infantile onset; Leukopenia; Malnutrition; Muscle weakness; Nausea; Oroticaciduria; Osteoporosis; Pancreatitis; Phenotypic variability; Pulmonary hemorrhage; Recurrent fractures; Respiratory insufficiency; Short stature; Skeletal muscle atrophy; Sparse hair; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Truncal obesity; VomitingAutoimmune Disorders
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
STX311q12.1100%gene with protein product600876STX3AAbdominal distention; Abnormal renal physiology; Dehydration; Diarrhea; Global developmental delay; Hypovolemia; Metabolic acidosis; Nephrocalcinosis; Pruritus; Villous atrophy
SUGCT7p14.193.78%gene with protein product609187C7orf10Autosomal recessive inheritance; Diarrhea; Failure to thrive; Glutaric aciduria; Hypertension; Vomiting
TCF319p13.3100%gene with protein product147141Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; B lymphocytopenia; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rash
TCN222q12.2100%gene with protein product613441Abnormality of chromosome stability; Abnormality of the mouth; Acute kidney injury; Ataxia; Autosomal recessive inheritance; Diarrhea; Failure to thrive; IgA deficiency; IgG deficiency; IgM deficiency; Intellectual disability; Irritability; Lethargy; Lymphopenia; Macrocytic anemia; Megaloblastic bone marrow; Methylmalonic aciduria; Muscle weakness; Neutropenia; Pancytopenia; Reticulocytopenia; Thrombocytopenia; Vomiting
TMPRSS1521q21.198.86%gene with protein product606635PRSS7Autosomal recessive inheritance; Diarrhea; Failure to thrive; Hypoproteinemia; Hypoproteinemic edema
TNFRSF13B17p11.2100%gene with protein product604907Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent otitis media; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Primary Immunodeficiency
TNFRSF13C22q13.2100%gene with protein product606269Adult onset; Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Phenotypic variability; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
TNFRSF1A12p13.31100%gene with protein product191190TNFR1Abdominal pain; Amyloidosis; Arthralgia; Arthritis; Autosomal dominant inheritance; Conjunctival hyperemia; Constipation; Diarrhea; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Hepatic amyloidosis; Intestinal obstruction; Leukocytosis; Lymphadenopathy; Muscle stiffness; Myalgia; Orchitis; Pericarditis; Periorbital edema; Pleuritis; Skin rash; Splenomegaly; VomitingPrimary Immunodeficiency
TREH11q23.3100%gene with protein product275360Autosomal recessive inheritance; Diarrhea
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease
TTR18q12.1100%gene with protein product176300PALB, CTS1Abnormal test result; Adult onset; Amyloid deposition in the vitreous humor; Amyloidosis; Arrhythmia; Ataxia; Atrioventricular block; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Constipation; Constrictive median neuropathy; Dementia; Diarrhea; Digital flexor tenosynovitis; Dysarthria; Dysautonomia; Headache; Hearing impairment; Hemiparesis; Hyporeflexia; Impotence; Increased CSF protein; Muscle weakness; Nephropathy; Nystagmus; Orthostatic hypotension due to autonomic dysfunction; Paraplegia; Peripheral axonal neuropathy; Peripheral neuropathy; Phenotypic variability; Polyneuropathy; Progressive; Seizures; Spasticity; Stroke-like episode; Tremor; Urinary incontinence; Visual impairment; Vitamin B6 deficiency; Vitreous floaters; Weight loss
TTR18q12.1100%gene with protein product176300PALB, CTS1Abnormal test result; Adult onset; Amyloid deposition in the vitreous humor; Amyloidosis; Arrhythmia; Ataxia; Atrioventricular block; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Constipation; Constrictive median neuropathy; Dementia; Diarrhea; Digital flexor tenosynovitis; Dysarthria; Dysautonomia; Headache; Hearing impairment; Hemiparesis; Hyporeflexia; Impotence; Increased CSF protein; Muscle weakness; Nephropathy; Nystagmus; Orthostatic hypotension due to autonomic dysfunction; Paraplegia; Peripheral axonal neuropathy; Peripheral neuropathy; Phenotypic variability; Polyneuropathy; Progressive; Seizures; Spasticity; Stroke-like episode; Tremor; Urinary incontinence; Visual impairment; Vitamin B6 deficiency; Vitreous floaters; Weight loss
TYMP22q13.33100%gene with protein product131222MNGIE, ECGF1Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Areflexia; Atrophic muscularis propria; Autosomal recessive inheritance; Cachexia; Constipation; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Diarrhea; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Easy fatigability; Elevated hepatic transaminases; External ophthalmoplegia; Foot dorsiflexor weakness; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Hyperalaninemia; Hypointensity of cerebral white matter on MRI; Increased CSF protein; Intermittent diarrhea; Lactic acidosis; Leukoencephalopathy; Malabsorption; Malnutrition; Mitochondrial myopathy; Multiple mitochondrial DNA deletions; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Sensorimotor neuropathy; Sensorineural hearing impairment; Small intestinal dysmotility; Subsarcolemmal accumulations of abnormally shaped mitochondria; Vomiting
UCP211q13100%gene with protein product601693BMIQ4Abnormality of fatty-acid metabolism; Coma; Diarrhea; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Neonatal hypoglycemia; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Tachycardia; Vomiting
ZAP702q11.2100%gene with protein product176947SRKAutosomal recessive inheritance; Diarrhea; Eczematoid dermatitis; Failure to thrive; Hepatomegaly; Infantile onset; Panhypogammaglobulinemia; Pneumonia; Proteinuria; Recurrent candida infections; SplenomegalyAutoimmune Disorders ; 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.


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(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