XomeDxSlice Tool

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

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Phenotypes
Pallor

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
ALAS2Xp11.21100%gene with protein product301300ASBAbnormality of iron homeostasis; Anemia; Childhood onset; Cutaneous photosensitivity; Fatigue; Hypochromic microcytic anemia; Increased erythrocyte protoporphyrin concentration; Macrocytic anemia; Muscle weakness; Pallor; Sideroblastic anemia; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
C15ORF4115q14100%gene with protein product615626Anemia of inadequate production; Anisocytosis; Autosomal recessive inheritance; Erythroid hyperplasia; Hepatomegaly; Jaundice; Pallor; Poikilocytosis; Reticulocytosis; SplenomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
DHFR5q14.199.97%gene with protein product126060Absence seizures; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Eyelid myoclonus; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hepatomegaly; Jaundice; Megaloblastic anemia; Pallor; Pancytopenia; Poor head control; Postnatal microcephaly; Thrombocytopenia; Variable expressivity
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
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
HBA116p13.394.95%gene with protein product141800Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HBA216p13.371.52%gene with protein product141850Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
HBG111p15.454.53%gene with protein product142200Abnormal bone structure; Abnormal hemoglobin; Anemia; Autosomal dominant inheritance; Hepatomegaly; Microcytic anemia; Pallor; Persistence of hemoglobin F; Splenomegaly
HBG211p15.482.76%gene with protein product142250Abnormal bone structure; Anemia; Autosomal dominant inheritance; Congenital onset; Cyanosis; Hepatomegaly; Methemoglobinemia; Pallor; Persistence of hemoglobin F; Splenomegaly
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
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
KCNQ220q13.33100%gene with protein product602235EBN, EBN1Abnormal globus pallidus morphology; Abnormality of vision; Apnea; Autosomal dominant inheritance; Cerebral edema; Choreoathetosis; Deeply set eye; Dysesthesia; Dyskinesia; Dystonia; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Facial erythema; Feeding difficulties; Focal clonic seizures; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Heterogeneous; Hypertonia; Inability to walk; Infantile onset; Intellectual disability; Muscular hypotonia; Myoclonus; Myokymia; Neonatal onset; Pallor; Phenotypic variability; Poor gross motor coordination; Profound global developmental delay; Reduced consciousness/confusion; Seizures; Spastic tetraparesis
KLF119p13.13100%gene with protein product600599Abnormal bone structure; Absence of Lutheran antigen on erythrocytes; Anemia; Anemia of inadequate production; Autosomal dominant inheritance; Congenital onset; Erythroid hyperplasia; Hepatomegaly; Hydrops fetalis; Hyperbilirubinemia; Pallor; Persistence of hemoglobin F; Reticulocytosis; Short stature; SplenomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
KLHL77p15.3100%gene with protein product611119Abnormal anterior chamber morphology; Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Abnormality of the retinal vasculature; Abnormality of the testis; Accessory oral frenulum; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Biparietal narrowing; Blindness; Camptodactyly of finger; Cataract; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Conductive hearing impairment; Convex nasal ridge; Death in infancy; Elbow dislocation; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Keratoconus; Limitation of joint mobility; Low anterior hairline; Low-set ears; Microcephaly; Narrow chest; Nevus flammeus of the forehead; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pallor; Photophobia; Platyspondyly; Progressive night blindness; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Short thorax; Strabismus; Supernumerary nipple; Synophrys; Thick hair; Trigonocephaly; Ulnar deviation of finger; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridge
LRAT4q32.1100%gene with protein product604863Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Conductive hearing impairment; Congenital blindness; Constriction of peripheral visual field; Decreased light- and dark-adapted electroretinogram amplitude; Encephalocele; Falls; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pallor; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Wide nasal bridge
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
MMACHC1p34.1100%gene with protein product609831Abnormality of extrapyramidal motor function; Anorexia; Autosomal recessive inheritance; Cerebral cortical atrophy; Confusion; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dementia; Failure to thrive; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hematuria; Hemolytic-uremic syndrome; High forehead; Homocystinuria; Hydrocephalus; Hyperhomocystinemia; Hypomethioninemia; Infantile onset; Intellectual disability; Lethargy; Long face; Low-set ears; Macrotia; Megaloblastic anemia; Megaloblastic bone marrow; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Microcephaly; Nephropathy; Neutropenia; Nystagmus; Pallor; Pigmentary retinopathy; Proteinuria; Reduced visual acuity; Renal insufficiency; Retinopathy; Seizures; Smooth philtrum; Thrombocytopenia; Thromboembolism; Tremor; Visual impairment
MMADHC2q23.299.96%gene with protein product611935C2orf25Anorexia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral cortical atrophy; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dystonia; Failure to thrive; Fatigue; Gait disturbance; Generalized hypotonia; Global developmental delay; Homocystinuria; Hyperhomocystinemia; Hypomethioninemia; Increased mean corpuscular volume; Infantile onset; Intellectual disability; Lethargy; Megaloblastic anemia; Megaloblastic bone marrow; Methylmalonic acidemia; Methylmalonic aciduria; Nystagmus; Pallor; Seizures; Spastic ataxia
MYD883p22.2100%gene with protein product602170Abnormality of neutrophils; Autosomal dominant inheritance; Gingival bleeding; Hypercoagulability; Immunodeficiency; Impaired lymphocyte transformation with phytohemagglutinin; Leukemia; Lymphoma; Monoclonal immunoglobulin M proteinemia; Normocytic anemia; Pallor; Polyclonal elevation of IgM; Polyneuropathy; Recurrent bacterial skin infections; Respiratory insufficiency; Vertigo
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PUS112q24.3399.99%gene with protein product608109Anemia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Delayed puberty; Distichiasis; EMG abnormality; Erythroid hyperplasia; Exercise intolerance; Failure to thrive; Generalized limb muscle atrophy; Glaucoma; High palate; Hypochromic anemia; Increased serum ferritin; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Microcytic anemia; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Pallor; Progressive muscle weakness; Scoliosis; Short nose; Sideroblastic anemiaAplastic Anemia ; Bone Marrow Failure Syndromes
RPL111p36.11100%gene with protein product604175Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Atresia of the external auditory canal; Autosomal dominant inheritance; Choanal atresia; Cleft palate; Delayed puberty; Fatigue; Fetal distress; Hearing impairment; Increased mean corpuscular volume; Intrauterine growth retardation; Macrocytic anemia; Migraine; Neutropenia; Osteopenia; Osteoporosis; Pallor; Patent ductus arteriosus; Polyhydramnios; Recurrent otitis media; Scoliosis; Secundum atrial septal defect; Short thumb; Small hypothenar eminence; Sprengel anomaly; Triphalangeal thumb; Ventricular septal defect; Vitamin D deficiencyAplastic Anemia ; Bone Marrow Failure Syndromes
RPL153p24.282.13%gene with protein product604174Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Elevated red cell adenosine deaminase activity; Fatigue; Macrocytic anemia; Migraine; Normochromic anemia; Pallor; Reticulocytopenia; Triphalangeal thumb; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPL1819q13.33100%gene with protein product604179Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; Pallor
RPL2617p13.1100%gene with protein product603704Abnormal eyelid morphology; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Anemia; Anemia of inadequate production; Arrhythmia; Atresia of the external auditory canal; Autosomal dominant inheritance; Bicuspid aortic valve; Bone marrow hypocellularity; Cleft palate; Delayed puberty; Fatigue; Forearm reduction defects; Hypoplasia of the radius; Hypoplasia of the ulna; Macrocytic anemia; Migraine; Neutropenia; Pallor; Renal agenesis; Short stature; Stenosis of the external auditory canalBone Marrow Failure Syndromes
RPL2717q21100%gene with protein product607526Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Anemia; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; Pallor; Pulmonic stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
RPL359q33.3100%gene with protein productAbnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; PallorAplastic Anemia ; Bone Marrow Failure Syndromes
RPL35A3q29100%gene with protein product180468Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Erythroid hypoplasia; Fatigue; Global developmental delay; Hypertelorism; Hypospadias; Infantile onset; Leukopenia; Low-set ears; Macrocytic anemia; Migraine; Pallor; Reticulocytopenia; Short stature; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPL51p22.1100%gene with protein product603634Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Bifid uvula; Cleft palate; Cleft upper lip; Delayed puberty; Failure to thrive; Fatigue; Growth delay; Hypertelorism; Increased mean corpuscular volume; Macrocytic anemia; Micrognathia; Migraine; Mitral regurgitation; Mitral valve prolapse; Pallor; Patent ductus arteriosus; Persistence of hemoglobin F; Short thumb; Tetralogy of Fallot; Tracheomalacia; Ventricular hypertrophy; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPS106p21.31100%gene with protein product603632Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Anemia; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Growth delay; Macrocytic anemia; Migraine; Pallor; Vitamin D deficiencyAplastic Anemia ; Bone Marrow Failure Syndromes
RPS1715q25.293.47%gene with protein product180472RPS17LAbnormal facial shape; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Erythroid hypoplasia; Fatigue; Macrocytic anemia; Migraine; Neutropenia; Pallor; Reticulocytopenia; Short statureAplastic Anemia ; Bone Marrow Failure Syndromes
RPS1919q13.2100%gene with protein product60347411 pairs of ribs; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Bifid thoracic vertebrae; Cleft palate; Cleft upper lip; Coarctation of aorta; Colon cancer; Congenital hypoplastic anemia; Congestive heart failure; Delayed cranial suture closure; Delayed puberty; Depressed nasal ridge; Downslanted palpebral fissures; Elevated red cell adenosine deaminase activity; Failure to thrive; Fatigue; High palate; Hypertelorism; Hypoplasia of the radius; Hypoplastic coccygeal vertebrae; Hypoplastic ilia; Hypoplastic sacral vertebrae; Infantile onset; Intrauterine growth retardation; Macrocytic anemia; Microcephaly; Micrognathia; Migraine; Myelodysplasia; Narrow chest; Neutropenia; Osteosarcoma; Pallor; Parietal foramina; Partial duplication of thumb phalanx; Premature birth; Reticulocytopenia; Retrognathia; Short neck; Short stature; Short thumb; Strabismus; Thrombocytopenia; Thrombocytosis; Triphalangeal thumb; Ventricular septal defect; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
RPS1919q13.2100%gene with protein product60347411 pairs of ribs; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Bifid thoracic vertebrae; Cleft palate; Cleft upper lip; Coarctation of aorta; Colon cancer; Congenital hypoplastic anemia; Congestive heart failure; Delayed cranial suture closure; Delayed puberty; Depressed nasal ridge; Downslanted palpebral fissures; Elevated red cell adenosine deaminase activity; Failure to thrive; Fatigue; High palate; Hypertelorism; Hypoplasia of the radius; Hypoplastic coccygeal vertebrae; Hypoplastic ilia; Hypoplastic sacral vertebrae; Infantile onset; Intrauterine growth retardation; Macrocytic anemia; Microcephaly; Micrognathia; Migraine; Myelodysplasia; Narrow chest; Neutropenia; Osteosarcoma; Pallor; Parietal foramina; Partial duplication of thumb phalanx; Premature birth; Reticulocytopenia; Retrognathia; Short neck; Short stature; Short thumb; Strabismus; Thrombocytopenia; Thrombocytosis; Triphalangeal thumb; Ventricular septal defect; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
RPS2410q22.3100%gene with protein product602412Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Increased mean corpuscular volume; Macrocytic anemia; Migraine; Pallor; Persistence of hemoglobin F; Reticulocytopenia; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
RPS2612q13.2100%gene with protein product603701Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Infantile onset; Macrocytic anemia; Migraine; Pallor; ReticulocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
RPS271q21.3100%gene with protein product603702Abnormality of skin pigmentation; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Anemia; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; PallorBone Marrow Failure Syndromes
RPS2819p13.2100%gene with protein product603685Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Broad neck; Cleft palate; Congenital diaphragmatic hernia; Delayed puberty; Downslanted palpebral fissures; Epicanthus; Fatigue; Feeding difficulties; Global developmental delay; Infantile onset; Macrocytic anemia; Micrognathia; Microtia; Midface retrusion; Migraine; Mixed hearing impairment; Pallor; Posteriorly rotated ears; Respiratory distress; Short stature; Sparse and thin eyebrowBone Marrow Failure Syndromes
RPS2914q21.3100%gene with protein product603633Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Childhood onset; Cleft palate; Delayed puberty; Elevated red cell adenosine deaminase activity; Fatigue; Incomplete penetrance; Macrocytic anemia; Migraine; Normocytic anemia; Pallor; Variable expressivityAplastic Anemia ; Bone Marrow Failure Syndromes
RPS72p25.399.95%gene with protein product603658Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Delayed puberty; Fatigue; Hypertelorism; Macrocytic anemia; Migraine; Neutropenia; Pallor; Short nose; Short stature; Thick upper lip vermilion; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
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
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
SLC4A117q21.31100%gene with protein product109270EPB3, AE1, DI, WDAbnormality of metabolism/homeostasis; Anorexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal renal tubular acidosis; Elliptocytosis; Failure to thrive; Hemolytic anemia; Hepatosplenomegaly; Hyperbilirubinemia; Hyperchloremic metabolic acidosis; Hypocalcemia; Hypokalemia; Increased red cell osmotic fragility; Isothenuria; Jaundice; Lethargy; Metabolic acidosis; Nephrocalcinosis; Osteomalacia; Pallor; Pathologic fracture; Periodic hypokalemic paresis; Periodic paralysis; Postnatal growth retardation; Renal tubular acidosis; Reticulocytosis; Rickets; Short stature; Spherocytosis; Splenomegaly; StomatocytosisHemolytic Anemia
SNX107p15.299.98%gene with protein product614780Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Facial palsy; Failure to thrive; Feeding difficulties; Frontal bossing; Growth delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Lymphadenopathy; Macrocephaly; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Splenomegaly; Thrombocytopenia; Tremor; Visual impairment
STEAP32q14.2100%gene with protein product609671Abnormality of the hypothalamus-pituitary axis; Anemia; Anisopoikilocytosis; Autosomal dominant inheritance; Azoospermia; Decreased mean corpuscular volume; Decreased transferrin saturation; Elevated hepatic iron concentration; Elevated hepatic transaminases; Fatigue; Hepatomegaly; Hypogonadism; Increased serum ferritin; Increased serum iron; Pallor; Reticulocytopenia; Splenomegaly
TCIRG111q13.2100%gene with protein product604592Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Blindness; Bone pain; Bowing of the long bones; Carious teeth; Chronic rhinitis; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Elevated alkaline phosphatase; Facial palsy; Facial paralysis; Failure to thrive; Flared metaphysis; Frontal bossing; Growth delay; Hearing impairment; Hepatomegaly; Heterogeneous; Hydrocephalus; Lymphadenopathy; Macrocephaly; Narrow chest; Nystagmus; Ophthalmoparesis; Opsoclonus; Optic atrophy; Optic nerve compression; Osteomyelitis; Osteopetrosis; Otitis media; Pallor; Pancytopenia; Pathologic fracture; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Sandwich appearance of vertebral bodies; Seizures; Splenomegaly; Tetany; Tremor; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes
TMPRSS622q12.399.99%gene with protein product609862Abnormal intestine morphology; Anisocytosis; Autosomal recessive inheritance; Hyperkeratosis; Hypochromic microcytic anemia; Hypocupremia; Ichthyosis; Intellectual disability; Intrahepatic cholestasis; Pallor; Peripheral neuropathy; Poikilocytosis
TNFSF1113q14100%gene with protein product602642Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Blindness; Bone pain; Bowing of the long bones; Carious teeth; Chronic rhinitis; Chronic rhinitis due to narrow nasal airway; Cranial hyperostosis; Craniosynostosis; Delayed eruption of teeth; Diaphyseal sclerosis; Extramedullary hematopoiesis; Facial paralysis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Hydrocephalus; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Mandibular prognathia; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteopetrosis; Otitis media; Pallor; Pancytopenia; Persistence of primary teeth; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Splenomegaly; Thrombocytopenia; Tremor; Visual impairment
TSR2Xp11.2299.99%gene with protein product300945Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Conductive hearing impairment; Delayed puberty; Downslanted palpebral fissures; Fatigue; Macrocytic anemia; Micrognathia; Microtia; Midface retrusion; Migraine; Pallor; X-linked recessive inheritanceBone Marrow Failure Syndromes
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
VPS13A9q21.299.95%gene with protein product605978CHACAbnormal bleeding; Abnormal urinary color; Abnormality of vision; Acanthocytosis; Aggressive behavior; Anxiety; Areflexia; Ataxia; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Caudate atrophy; Cerebral cortical atrophy; Chorea; Death in early adulthood; Developmental regression; Difficulty in tongue movements; Disinhibition; Distal upper limb muscle weakness; Drooling; Dysarthria; Dysgraphia; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG abnormality; Fatigue; Gait disturbance; Hyporeflexia; Limb muscle weakness; Memory impairment; Mood changes; Muscle fiber atrophy; Muscular hypotonia; Myopathy; Orofacial dyskinesia; Pallor; Parkinsonism; Peripheral neuropathy; Personality changes; Pes cavus; Progressive; Progressive choreoathetosis; Progressive distal muscular atrophy; Protruding tongue; Psychosis; Seizures; Self-mutilation of tongue and lips due to involuntary movements; Sensory neuropathy; Skeletal muscle atrophy; Tics; Tremor; Ventriculomegaly


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


  SUGGESTED CUSTOM SLICES  

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

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