XomeDxSlice Tool

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

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Phenotypes
Pruritus

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA122q35100%gene with protein product607800ICR2BAbnormality of abdomen morphology; Abnormality of the helix; Abnormality of the nail; Abnormality of the nervous system; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Depressed nasal ridge; Dry skin; Eclabion; Ectropion; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing abnormality; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Premature birth; Proptosis; Pruritus; Recurrent respiratory infections; Rigidity; Short finger; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ABCA122q35100%gene with protein product607800ICR2BAbnormality of abdomen morphology; Abnormality of the helix; Abnormality of the nail; Abnormality of the nervous system; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Depressed nasal ridge; Dry skin; Eclabion; Ectropion; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing abnormality; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Premature birth; Proptosis; Pruritus; Recurrent respiratory infections; Rigidity; Short finger; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
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
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
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
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
ALOX12B17p13.1100%gene with protein product603741Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; External genital hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hypergranulosis; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Intellectual disability; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Paralysis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ALOX12B17p13.1100%gene with protein product603741Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; External genital hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hypergranulosis; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Intellectual disability; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Paralysis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ALOXE317p13.199.94%gene with protein product607206Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; External genital hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hypergranulosis; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Intellectual disability; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Paralysis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ALOXE317p13.199.94%gene with protein product607206Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; External genital hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hypergranulosis; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Intellectual disability; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Paralysis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
AQP512q13.12100%gene with protein product600442Abnormal blistering of the skin; Diffuse palmoplantar keratoderma; Erythema; Papule; Pruritus; Skin ulcerPalmoplantar keratoderma plus congenital ichthyosis
ATP2A212q24.11100%gene with protein product108740ATP2B, DARAbnormality of the hair; Acrokeratosis; Anal mucosal leukoplakia; Autosomal dominant inheritance; Bipolar affective disorder; Enlargement of parotid gland; Epidermal acanthosis; Hyperkeratosis; Hypermelanotic macule; Intellectual disability, mild; Palmar pits; Palmoplantar keratoderma; Plantar pits; Pruritus; Ridged nail; Schizophrenia; Seizures; Subungual hyperkeratotic fragmentsPalmoplantar keratoderma plus congenital ichthyosis
ATP2A212q24.11100%gene with protein product108740ATP2B, DARAbnormality of the hair; Acrokeratosis; Anal mucosal leukoplakia; Autosomal dominant inheritance; Bipolar affective disorder; Enlargement of parotid gland; Epidermal acanthosis; Hyperkeratosis; Hypermelanotic macule; Intellectual disability, mild; Palmar pits; Palmoplantar keratoderma; Plantar pits; Pruritus; Ridged nail; Schizophrenia; Seizures; Subungual hyperkeratotic fragmentsPalmoplantar keratoderma plus congenital ichthyosis
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
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
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
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
BAAT9q31.1100%gene with protein product602938Autosomal recessive inheritance; Failure to thrive; Increased serum bile acid concentration; Pruritus; Rickets; Steatorrhea; Vitamin K deficiency
CARD1417q25.3100%gene with protein product607211PSORS2Autosomal dominant inheritance; Epidermal acanthosis; Erythroderma; Hyperkeratosis; Irregular hyperpigmentation; Palmoplantar keratoderma; Papule; Parakeratosis; Pruritus; Psoriasiform dermatitis; Subungual hyperkeratosisPalmoplantar keratoderma plus congenital ichthyosis
CD282q33.2100%gene with protein product186760Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
CD282q33.2100%gene with protein product186760Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
CDSN6p21.3399.98%gene with protein product602593Abnormality of metabolism/homeostasis; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital onset; Erythema; Hypotrichosis of the scalp; Increased IgE level; Onycholysis; Pruritus; Scaling skin; Short staturePalmoplantar keratoderma plus congenital ichthyosis
CERS315q26.3100%gene with protein product615276LASS3Abnormality of the nail; Alopecia; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Ectropion; Epidermal acanthosis; Erythroderma; Failure to thrive; Hearing impairment; Hypergranulosis; Hypohidrosis; Ichthyosis; Keratitis; Palmoplantar keratoderma; PruritusPalmoplantar keratoderma plus congenital ichthyosis
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
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
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
CYP4F2219p13.12100%gene with protein product611495Abnormality of the helix; Abnormality of the nail; Aplasia/Hypoplasia of the eyebrow; Dry skin; Ectropion; Erythroderma; Everted lower lip vermilion; Hyperkeratosis; Hypotrichosis; Ichthyosis; Lack of skin elasticity; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
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
DCDC26p22.3100%gene with protein product605755DFNB66Autosomal recessive inheritance; Bile duct proliferation; Biliary cirrhosis; Cholestasis; Cirrhosis; Elevated hepatic transaminases; Hepatic fibrosis; Hepatomegaly; Infantile onset; Jaundice; Nephronophthisis; Portal hypertension; Progressive; Pruritus; Sclerosing cholangitis; Sensorineural hearing impairment; Splenomegaly; Stage 5 chronic kidney disease
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
DNASE1L33p14.3100%gene with protein product602244Abdominal pain; Angioedema; Arthritis; Autoimmunity; Autosomal recessive inheritance; Complement deficiency; Conjunctivitis; Cough; Dyspnea; Episcleritis; Glomerulopathy; Hematuria; Hemoptysis; Irregular hyperpigmentation; Nausea and vomiting; Nephritis; Proteinuria; Pruritus; Renal insufficiency; Skin rash; Small vessel vasculitis; Systemic lupus erythematosus; Uveitis
DSG418q12.1100%gene with protein product607892Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal recessive inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Hypotrichosis; Hypotrichosis of the scalp; Patchy alopecia; Pruritus; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashesPalmoplantar keratoderma plus congenital ichthyosis
EPHX11q42.12100%gene with protein product132810EPHXAutosomal recessive inheritance; Failure to thrive; Increased serum bile acid concentration; Pruritus; Rickets; Steatorrhea; Vitamin K deficiency
EPOR19p13.2100%gene with protein product133171Abdominal pain; Abnormal hemoglobin; Arthralgia; Epistaxis; Fatigue; Headache; Polycythemia; Pruritus; Venous thrombosis; Vertigo
FECH18q21.31100%gene with protein product612386Abnormality of the heme biosynthetic pathway; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cholelithiasis; Cutaneous photosensitivity; Eczema; Edema; Erythema; Hemolytic anemia; Hepatic failure; Hypertriglyceridemia; Pruritus
FECH18q21.31100%gene with protein product612386Abnormality of the heme biosynthetic pathway; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cholelithiasis; Cutaneous photosensitivity; Eczema; Edema; Erythema; Hemolytic anemia; Hepatic failure; Hypertriglyceridemia; Pruritus
FH1q43100%gene with protein product136850Abnormality of the musculature; Adrenal pheochromocytoma; Agenesis of corpus callosum; Aminoaciduria; Anteverted nares; Autosomal recessive inheritance; Cerebral atrophy; Cerebral hemorrhage; Chest pain; Cholestasis; Choroid plexus cyst; Cutaneous leiomyoma; Depressed nasal bridge; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flushing; Frontal bossing; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hepatic failure; High palate; Hypercalcemia; Hypertelorism; Hypertensive retinopathy; Hypoplasia of the brainstem; Intellectual disability, profound; Lactic acidosis; Metabolic acidosis; Microcephaly; Multiple cutaneous leiomyomas; Nausea; Neurological speech impairment; Open operculum; Optic atrophy; Pallor; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Polycythemia; Polymicrogyria; Positive regitine blocking test; Proteinuria; Pruritus; Pulsatile tinnitus; Recurrent paroxysmal headache; Reduced subcutaneous adipose tissue; Relative macrocephaly; Sinus tachycardia; Status epilepticus; Visual impairment; Weight lossNephrotic Syndrome ; Rhabdomyolysis
HLA-DRA6p21.32100%gene with protein productXomeDxSlice is not appropriate.142860HLA-DRA1Alopecia; Lichenification; Perifollicular hyperkeratosis; Pruritus; Sparse axillary hair; Sparse pubic hair; Sparse scalp hair
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12RB119p13.1199.59%gene with protein product601604IL12RBAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Autosomal recessive inheritance; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunodeficiency; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus; Recurrent mycobacterial infections
IL2RGXq13.199.93%gene with protein product308380SCIDX1, IMD4, CIDXAbnormal lymphocyte morphology; Agammaglobulinemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Chronic diarrhea; Chronic oral candidiasis; Combined immunodeficiency; Decreased proportion of CD4-positive T cells; Decreased proportion of CD8-positive T cells; Desquamation of skin soon after birth; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Hepatomegaly; Hypoplasia of the thymus; IgG deficiency; Lymphadenopathy; Otitis media; Pneumonia; Pruritus; Recurrent bacterial meningitis; Recurrent bronchitis; Recurrent fungal infections; Severe combined immunodeficiency; Sinusitis; Skin rash; Splenomegaly; Thickened skin; X-linked recessive inheritanceInflammatory Bowel Disease ; Primary Immunodeficiency
IL31RA5q11.297.23%gene with protein product609510Autosomal dominant inheritance; Cutaneous amyloidosis; Pruritus
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
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
LIPN10q23.3199.95%gene with protein product613924LIPL4Abnormality of the helix; Abnormality of the nail; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Hypergranulosis; Hyperkeratosis; Hypotrichosis; Ichthyosis; Lack of skin elasticity; Orthokeratosis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
MMEL11p36.32100%gene with protein productMMEL2Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
MMP111q22.2100%gene with protein product120353CLGAbnormal blistering of the skin; Abnormality of the anus; Absent fingernail; Absent toenail; Ankyloglossia; Blepharitis; Carious teeth; Chronic obstructive pulmonary disease; Constipation; Corneal erosion; Delayed puberty; Dermal atrophy; Dysphagia; Ectropion; Esophageal stricture; Flexion contracture; Loss of eyelashes; Milia; Mitten deformity; Narrow mouth; Osteopenia; Osteoporosis; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Squamous cell carcinoma of the skinHeterotaxy
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
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
NIPAL45q33.3100%gene with protein product609383Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Palmoplantar keratoderma; Parakeratosis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
NIPAL45q33.3100%gene with protein product609383Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Palmoplantar keratoderma; Parakeratosis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
OSMR5p13.1100%gene with protein product601743Abnormality of the cranial nerves; Adult onset; Amyloidosis; Autosomal dominant inheritance; Cutis laxa; Lattice corneal dystrophy; Pruritus
PDGFRA4q1299.88%gene with protein product173490Abnormality of the nervous system; Autosomal dominant inheritance; Constipation; Dysphagia; Endocardial fibrosis; Eosinophilia; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Hepatomegaly; Hyperpigmentation of the skin; Intestinal obstruction; Large hands; Myalgia; Myeloproliferative disorder; Nausea and vomiting; Neoplasm of the stomach; Neurofibromas; Pruritus; Pulmonary infiltrates; Restrictive cardiomyopathy; Sarcoma; Somatic mutation; Splenomegaly; Sporadic; Urticaria; Venous thrombosis
PEPD19q13.1199.96%gene with protein product613230Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the middle ear; Anemia; Arachnodactyly; Asthma; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Carious teeth; Chronic lung disease; Convex nasal ridge; Crusting erythematous dermatitis; Cutaneous photosensitivity; Depressed nasal bridge; Depressed nasal ridge; Diffuse telangiectasia; Dry skin; Erythema; Generalized hirsutism; Genu valgum; Global developmental delay; Hearing impairment; Hepatomegaly; Hypertelorism; Low anterior hairline; Low posterior hairline; Micrognathia; Palmoplantar keratoderma; Papule; Petechiae; Prolonged neonatal jaundice; Prominent forehead; Proptosis; Pruritus; Ptosis; Recurrent pneumonia; Recurrent respiratory infections; Short nose; Skin ulcer; Splenomegaly; Systemic lupus erythematosus; Thin skin; Thrombocytopenia; Visual impairment; White forelock
PKP11q32.1100%gene with protein product601975Abnormal eyebrow morphology; Abnormality of the nail; Absent eyelashes; Alopecia; Blepharitis; Chronic diarrhea; Dry skin; Ectodermal dysplasia; Erythema; Failure to thrive; Fragile skin; Furrowed tongue; Hypotrichosis; Immunodeficiency; Palmoplantar keratoderma; Pruritus; Skin ulcer; Skin vesicleEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
PMVK1q21.3100%gene with protein product607622Abnormality of chromosome stability; Aplasia/Hypoplasia of the skin; Autosomal dominant inheritance; Cutaneous photosensitivity; Hyperkeratosis; Middle age onset; Neoplasm of the skin; Porokeratosis; Pruritus
PNPLA16p21.31100%gene with protein product612121Abnormality of the nail; Alopecia; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Ectropion; Erythroderma; Failure to thrive; Hearing impairment; Hypergranulosis; Hypohidrosis; Ichthyosis; Keratitis; Palmoplantar keratoderma; PruritusPalmoplantar keratoderma plus congenital ichthyosis
POU2AF111q23.1100%gene with protein product601206Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
PTPN39q3199.58%gene with protein product176877Acholic stools; Biliary tract neoplasm; Fatigue; Jaundice; Pruritus
RAG111p12100%gene with protein product179615Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Interstitial pneumonitis; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Sepsis; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RAG211p13100%gene with protein product179616Abnormal lymphocyte morphology; Alopecia; Anemia; Aplasia/Hypoplasia of the eyebrow; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Combined immunodeficiency; Conjunctivitis; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; IgG deficiency; Infantile onset; Lymphadenopathy; Mastoiditis; Meningitis; Otitis media; Panhypogammaglobulinemia; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent opportunistic infections; Recurrent respiratory infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate.157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
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
SPIB19q13.33100%gene with protein product606802Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STX311q12.1100%gene with protein product600876STX3AAbdominal distention; Abnormal renal physiology; Dehydration; Diarrhea; Global developmental delay; Hypovolemia; Metabolic acidosis; Nephrocalcinosis; Pruritus; Villous atrophy
SULT2B119q13.3100%gene with protein product604125Abnormality of the helix; Abnormality of the nail; Aplasia/Hypoplasia of the eyebrow; Dry skin; Ectropion; Erythroderma; Everted lower lip vermilion; Hyperkeratosis; Hypotrichosis; Ichthyosis; Lack of skin elasticity; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
TGM114q12100%gene with protein product190195ICR2Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Desquamation of skin soon after birth; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
TGM114q12100%gene with protein product190195ICR2Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Desquamation of skin soon after birth; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
THPO3q27.1100%gene with protein product600044MGDFAbnormal bleeding; Abnormality of the skeletal system; Acrocyanosis; Arterial thrombosis; Autosomal dominant inheritance; Chest pain; Headache; Hyperhidrosis; Hypertension; Impaired platelet aggregation; Myeloproliferative disorder; Paresthesia; Peripheral arterial stenosis; Pruritus; Somatic mutation; Splenomegaly; Thrombocytosis; Transient ischemic attack; Venous thrombosisBone Marrow Failure Syndromes
TJP29q21.11100%gene with protein product607709DFNA51Autosomal recessive inheritance; Failure to thrive; Hepatic failure; Hepatocellular carcinoma; Increased serum bile acid concentration; Intrahepatic cholestasis; Portal hypertension; Progressive; Pruritus; Rickets; Steatorrhea; Vitamin K deficiency
TNFRSF1B1p36.22100%gene with protein product191191TNFR2Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
TNFRSF1B1p36.22100%gene with protein product191191TNFR2Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
TNFSF159q32100%gene with protein product604052Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; Pruritus
TNPO37q32.1100%gene with protein product610032LGMD1FAbnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Biliary cirrhosis; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Increased IgM level; Jaundice; Onychomycosis; Orthostatic hypotension; Portal hypertension; PruritusRhabdomyolysis
TRPV317p13.2100%gene with protein product607066Abnormality of the fingernails; Anhidrosis; Ankylosis; Autosomal dominant inheritance; Carious teeth; Erythema; Flexion contracture; Hypodontia; Hypotrichosis; Nail dysplasia; Nail dystrophy; Palmoplantar hyperhidrosis; Palmoplantar keratoderma; Parakeratosis; Pruritus; Sensorineural hearing impairment; Skin fissure; Skin ulcer; Subungual hyperkeratosisPalmoplantar keratoderma plus congenital ichthyosis


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


  SUGGESTED CUSTOM SLICES  

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

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