XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Prolonged neonatal jaundice

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADAMTS139q34.2100%gene with protein product604134C9orf8Autosomal recessive inheritance; Confusion; Elevated serum creatinine; Fever; Hemolytic-uremic syndrome; Heterogeneous; Increased blood urea nitrogen; Increased serum lactate; Microangiopathic hemolytic anemia; Microscopic hematuria; Prolonged neonatal jaundice; Proteinuria; Reticulocytosis; Schistocytosis; Thrombocytopenia; TremorHemolytic Anemia
AMACR5p13.2100%gene with protein product604489Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Cholestasis; Depressivity; Elevated hepatic transaminases; Failure to thrive; Fat malabsorption; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypergonadotropic hypogonadism; Intrahepatic cholestasis; Migraine; Neonatal onset; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Prolonged neonatal jaundice; Sensorimotor neuropathy; Spasticity; Status epilepticus; Type II diabetes mellitus; Visual impairment
ATP6AP1Xq2899.98%gene with protein product300197ATP6S1, ATP6IP1Cirrhosis; Decreased antibody level in blood; Elevated hepatic transaminases; Hepatic steatosis; Hepatomegaly; Hypermetropia; Leukopenia; Prolonged neonatal jaundice; Recurrent bacterial infections; Sensorineural hearing impairment; Splenomegaly; Variable expressivity; X-linked recessive inheritance
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
CCDC1152q21.199.82%gene with protein product613734Autosomal recessive inheritance; Cholestatic liver disease; Cirrhosis; Copper accumulation in liver; Hepatomegaly; Infantile onset; Prolonged neonatal jaundice; Skeletal muscle atrophy; Splenomegaly
CDAN115q15.299.99%gene with protein product607465Anisocytosis; Autosomal recessive inheritance; Endopolyploidy on chromosome studies of bone marrow; Erythroid hyperplasia; Hydrops fetalis; Macrocytic dyserythropoietic anemia; Mild postnatal growth retardation; Poikilocytosis; Prolonged neonatal jaundice; Reduced activity of N-acetylglucosaminyltransferase II; Reticulocytosis; SplenomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
G6PDXq2899.99%gene with protein product305900Autosomal dominant inheritance; Fava bean-induced hemolytic anemia; Prolonged neonatal jaundice; Reticulocytosis; Unconjugated hyperbilirubinemia; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
GALK117q25.1100%gene with protein product604313GALKAutosomal recessive inheritance; Cataract; Galactosuria; Hypergalactosemia; Impairment of galactose metabolism; Prolonged neonatal jaundice
JAG120p12.2100%gene with protein product601920AGS, JAGL1Abnormal nasal morphology; Abnormality of the ribs; Areflexia; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Band keratopathy; Brachydactyly; Broad forehead; Butterfly vertebral arch; Cataract; Chorioretinal atrophy; Cirrhosis; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Dolichocephaly; Elevated hepatic transaminases; Exocrine pancreatic insufficiency; Failure to thrive; Hemivertebrae; Hepatocellular carcinoma; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hypoplasia of the ulna; Incomplete penetrance; Infantile onset; Intrauterine growth retardation; Long nose; Macrotia; Microcornea; Multiple small medullary renal cysts; Myopia; Papillary thyroid carcinoma; Peripheral pulmonary artery stenosis; Pigmentary retinopathy; Posterior embryotoxon; Preauricular pit; Prolonged neonatal jaundice; Proptosis; Reduced number of intrahepatic bile ducts; Renal dysplasia; Renal hypoplasia; Renal tubular acidosis; Short distal phalanx of finger; Specific learning disability; Strabismus; Stroke; Tetralogy of Fallot; Thin vermilion border; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral refluxVACTERL Association
MPV172p23.3100%gene with protein product137960Abnormality of the foot; Abnormality of the immune system; Acral ulceration and osteomyelitis leading to autoamputation of digits; Acute hepatic failure; Areflexia; Ataxia; Autosomal recessive inheritance; Cirrhosis; Decreased number of peripheral myelinated nerve fibers; Diarrhea; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypoglycemia; Hyporeflexia; Increased susceptibility to fractures; Infantile onset; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Nystagmus; Osteomyelitis leading to amputation due to slow healing fractures; Pain insensitivity; Painless fractures due to injury; Phenotypic variability; Progressive; Prolonged neonatal jaundice; Recurrent corneal erosions; Reye syndrome-like episodes; Sensorimotor neuropathy; Short stature; Vomiting
NPC118q11.2100%gene with protein product607623Abnormal cholesterol homeostasis; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cataplexy; Dementia; Dysarthria; Dysphagia; Dystonia; Fatal liver failure in infancy; Fetal ascites; Foam cells in visceral organs and CNS; Generalized hypotonia; Global developmental delay; Hepatomegaly; Heterogeneous; Intellectual disability; Loss of speech; Low cholesterol esterification rates; Neurofibrillary tangles; Neuronal loss in central nervous system; Onset; Phenotypic variability; Prolonged neonatal jaundice; Psychosis; Sea-blue histiocytosis; Seizures; Spasticity; Splenomegaly; Vertical supranuclear gaze palsy
NPC214q24.3100%gene with protein product601015Abnormal cholesterol homeostasis; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cataplexy; Dementia; Dysarthria; Dysphagia; Dystonia; Fetal ascites; Foam cells in visceral organs and CNS; Generalized hypotonia; Global developmental delay; Hepatomegaly; Heterogeneous; Intellectual disability; Loss of speech; Low cholesterol esterification rates; Neurofibrillary tangles; Onset; Perseveration; Prolonged neonatal jaundice; Psychosis; Respiratory failure; Sea-blue histiocytosis; Seizures; Spasticity; Splenomegaly; Stereotypy; Vertical supranuclear gaze palsy
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
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PKLR1q22100%gene with protein product609712Abnormality of the amniotic fluid; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholecystitis; Cholelithiasis; Chronic hemolytic anemia; Congenital hemolytic anemia; Hydrops fetalis; Increased red cell osmotic fragility; Increased serum ferritin; Increased serum iron; Jaundice; Polycythemia; Prolonged neonatal jaundice; Reduced erythrocyte 2,3-diphosphoglycerate concentration; Reduced red cell pyruvate kinase activity; Reticulocytosis; Splenomegaly; Unconjugated hyperbilirubinemiaHemolytic Anemia
POU1F13p11.299.93%gene with protein product173110PIT1Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Anteverted nares; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Malar flattening; Midface retrusion; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary hypothyroidism; Prolonged neonatal jaundice; Prominent forehead; Septo-optic dysplasia; Severe postnatal growth retardation; Short nose; Short stature; Sleep disturbance; Umbilical hernia
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
SMPD111p15.499.88%gene with protein product607608Abnormal macular morphology; Athetosis; Autosomal recessive inheritance; Bone-marrow foam cells; Cherry red spot of the macula; Constipation; Decreased circulating high-density lipoprotein levels; Diffuse reticular or finely nodular infiltrations; Dyspnea; Failure to thrive; Feeding difficulties in infancy; Foam cells with lamellar inclusion bodies; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypertriglyceridemia; Hyporeflexia; Increased circulating low-density lipoprotein levels; Infantile onset; Intellectual disability; Juvenile onset; Lymphadenopathy; Microcytic anemia; Muscle weakness; Osteoporosis; Phenotypic variability; Prolonged neonatal jaundice; Protuberant abdomen; Recurrent respiratory infections; Rigidity; Sea-blue histiocytosis; Short stature; Spasticity; Splenomegaly; Vomiting; Xanthomatosis
TBX191q24.2100%gene with protein product604614Adrenal hypoplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Autosomal recessive inheritance; Decreased circulating cortisol level; Fasting hypoglycemia; Fatigue; Hypoglycemic seizures; Hyponatremia; Hypotension; Neonatal hypoglycemia; Prolonged neonatal jaundice
TREX13p21.31100%gene with protein product606609AGS1Abnormality of extrapyramidal motor function; Abnormality of the periventricular white matter; Abnormality of the retinal vasculature; Acrocyanosis; Adult onset; Apraxia; Arrhinencephaly; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Central nervous system degeneration; Cerebral atrophy; Chilblain lesions; Chronic CSF lymphocytosis; Deep white matter hypodensities; Dementia; Dysarthria; Dystonia; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties in infancy; Fever; Focal white matter lesions; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia/hemiparesis; Hepatosplenomegaly; Increased CSF interferon alpha; Intellectual disability, profound; Juvenile onset; Leukodystrophy; Leukoencephalopathy; Limb pain; Lower limb hyperreflexia; Macular edema; Mental deterioration; Migraine; Morphological abnormality of the pyramidal tract; Multiple gastric polyps; Muscular hypotonia of the trunk; Nystagmus; Petechiae; Poor head control; Porencephalic cyst; Progressive; Progressive encephalopathy; Progressive forgetfulness; Progressive microcephaly; Progressive visual loss; Prolonged neonatal jaundice; Proteinuria; Punctate vasculitis skin lesions; Raynaud phenomenon; Retinal exudate; Retinal hemorrhage; Retinopathy; Seizures; Skin ulcer; Spasticity; Strabismus; Stroke; Telangiectasia; Thrombocytopenia; Vasculitis in the skin; Visual impairmentAutoimmune Disorders
TRHR8q23.1100%gene with protein product188545Coarse facial features; Constipation; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hypothyroidism; Large posterior fontanelle; Macroglossia; Prolonged neonatal jaundice; Sleep disturbance; Umbilical hernia
UGT1A12q37.1complex locus constituent191740UGT1, GNT1Autosomal recessive inheritance; Biliary tract abnormality; Cerebral palsy; Encephalopathy; Infantile muscular hypotonia; Jaundice; Kernicterus; Neonatal hyperbilirubinemia; Neonatal unconjugated hyperbilirubinemia; Prolonged neonatal jaundice; Unconjugated hyperbilirubinemia; Very rare
UGT1A12q37.1complex locus constituent191740UGT1, GNT1Autosomal recessive inheritance; Biliary tract abnormality; Cerebral palsy; Encephalopathy; Infantile muscular hypotonia; Jaundice; Kernicterus; Neonatal hyperbilirubinemia; Neonatal unconjugated hyperbilirubinemia; Prolonged neonatal jaundice; Unconjugated hyperbilirubinemia; Very rare
UTP416q22.1100%gene with protein product607456CIRH1AAutosomal recessive inheritance; Biliary cirrhosis; Portal hypertension; Prolonged neonatal jaundice


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