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
Hypoalbuminemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACTN419q13.299.99%gene with protein product604638FSGS1Anemia; Autosomal dominant inheritance; Edema; Focal segmental glomerulosclerosis; Hyperlipidemia; Hypertension; Hypoalbuminemia; Incomplete penetrance; Proteinuria; Slow progression; Variable expressivityNephrotic Syndrome
ALB4q13.3100%gene with protein product103600Autosomal recessive inheritance; Fatigue; Hyperlipidemia; Hypoalbuminemia; Hypotension; Lipodystrophy; OsteoporosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
APTX9p21.1100%gene with protein product606350AXA1Adult onset; Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Decreased number of large peripheral myelinated nerve fibers; Dementia; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dystonia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Hypercholesterolemia; Hypoalbuminemia; Hypometric saccades; Hyporeflexia; Juvenile onset; Limb ataxia; Medial flaring of the eyebrow; Muscle weakness; Oculomotor apraxia; Peripheral axonal degeneration; Peripheral neuropathy; Pes cavus; Progressive external ophthalmoplegia; Scoliosis; Tremor; Truncal ataxia
ARHGDIA17q25.3100%gene with protein product601925GDIA1Autosomal recessive inheritance; Chronic kidney disease; Cortical visual impairment; Diffuse mesangial sclerosis; Edema; Hypoalbuminemia; Intellectual disability; Neonatal onset; Nephrotic syndrome; Proteinuria; Rapidly progressive; Sensorineural hearing impairment; Thin glomerular basement membraneNephrotic Syndrome
B2M15q21.1100%gene with protein product109700Autonomic bladder dysfunction; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowel incontinence; Bronchiectasis; Cholestasis; Chronic constipation; Chronic diarrhea; Edema; Gastrointestinal dysmotility; Gastrointestinal hemorrhage; Generalized amyloid deposition; Hematuria; Hepatomegaly; Hypertension; Hypoalbuminemia; Hypoplasia of the ulna; Hypoproteinemia; IgG deficiency; Intermittent diarrhea; Keratoconjunctivitis sicca; Malabsorption; Nephropathy; Nephrotic syndrome; Orthostatic hypotension due to autonomic dysfunction; Proteinuria; Radial bowing; Recurrent respiratory infections; Skin rash; Splenomegaly; Variable expressivity; Vertigo; Weight loss; Xerostomia
BMPR1A10q23.2100%gene with protein product601299ACVRLK3Abdominal pain; Adenomatous colonic polyposis; Anemia; Autosomal dominant inheritance; Colon cancer; Failure to thrive; Hyperplastic colonic polyposis; Hypoalbuminemia; Hypokalemia; Juvenile colonic polyposis; Multiple gastric polyps
CCBE118q21.32100%gene with protein product612753Abnormality of dental morphology; Ascites; Atrial septal defect; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Broad forehead; Camptodactyly; Conductive hearing impairment; Conical incisor; Coronal craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Ectopic kidney; Epicanthus; Erysipelas; External ear malformation; Flat face; Gingival overgrowth; Glaucoma; Hirsutism; Horseshoe kidney; Hydronephrosis; Hyperactivity; Hypertelorism; Hypoalbuminemia; Hypoplastic iliac wing; Increased number of teeth; Intellectual disability; Intestinal lymphangiectasia; Joint contracture of the hand; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Mild postnatal growth retardation; Narrow chest; Narrow mouth; Narrow palate; Oligodontia; Pachygyria; Pectus excavatum; Pericardial effusion; Pericardial lymphangiectasia; Periorbital edema; Pleural effusion; Pleural lymphangiectasia; Protein-losing enteropathy; Rectal prolapse; Recurrent respiratory infections; Reduced number of teeth; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short foot; Short palm; Small hand; Smooth philtrum; Spina bifida occulta; Splenomegaly; Talipes equinovarus; Thyroid lymphangiectasia; Umbilical hernia; Ventricular septal defect; Vesicoureteral reflux; Wide nasal bridge
COQ8B19q13.2100%gene with protein productFormer name = ADCK4615567ADCK4Autosomal recessive inheritance; Edema; Focal segmental glomerulosclerosis; Hypoalbuminemia; Nephrotic syndrome; Progressive; Proteinuria; Stage 5 chronic kidney diseaseNephrotic Syndrome
DGAT18q24.3100%gene with protein product604900DGATAutosomal recessive inheritance; Diarrhea; Hypercholesterolemia; Hyperlipidemia; Hypoalbuminemia; Protein-losing enteropathy; VomitingInflammatory Bowel Disease
DGUOK2p13.1100%gene with protein product601465Abnormal conjugate eye movement; Adult onset; Ascites; Autosomal recessive inheritance; Cerebral atrophy; Cerebral cortical atrophy; Cognitive impairment; Decreased activity of mitochondrial respiratory chain; Depletion of mitochondrial DNA in liver; Distal muscle weakness; Dysphonia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized aminoaciduria; Generalized hypotonia; Growth delay; Hepatic failure; Hepatic steatosis; Hepatocellular necrosis; Hepatomegaly; Hyperbilirubinemia; Hyperreflexia; Hypoalbuminemia; Hypoglycemia; Hyporeflexia; Hypothermia; Increased serum lactate; Jaundice; Lactic acidosis; Microcephaly; Micronodular cirrhosis; Mitochondrial myopathy; Nystagmus; Peripheral axonal neuropathy; Periportal fibrosis; Polyneuropathy; Portal hypertension; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Splenomegaly; Thrombocytopenia; VomitingRhabdomyolysis
FN12q35100%gene with protein product135600Abnormality of the wrist; Autosomal dominant inheritance; Coxa vara; Edema of the lower limbs; Generalized distal tubular acidosis; Glomerulopathy; Hyperconvex vertebral body endplates; Hyperlordosis; Hypertension; Hypoalbuminemia; Hypoplasia of the odontoid process; Mesangial abnormality; Metaphyseal irregularity; Micromelia; Microscopic hematuria; Mild short stature; Nephrotic syndrome; Ovoid vertebral bodies; Proteinuria; Recurrent fractures; Renal cell carcinoma; Renal insufficiency; Short femoral neck; Short stature; Slow progression; Spondylometaphyseal dysplasia; Stage 5 chronic kidney disease; Waddling gait
ITGA317q21.33100%gene with protein product605025MSK18Autosomal recessive inheritance; Decreased glomerular filtration rate; Fine hair; Fragile skin; Gynecomastia; Hypertelorism; Hypoalbuminemia; Macrotia; Microcephaly; Narrow chest; Narrow mouth; Neonatal respiratory distress; Phenotypic variability; Prominent forehead; Proteinuria; Renal insufficiency; Respiratory acidosis; Round face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Tubular atrophyNephrotic Syndrome
MPI15q24.1100%gene with protein product154550Abnormal bleeding; Abnormal thrombosis; Autosomal recessive inheritance; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Failure to thrive; Generalized hypotonia; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemic hypoglycemia; Hypoalbuminemia; Hypoglycemia; Lymphedema; Malabsorption; Protein-losing enteropathy; Reduced antithrombin III activity; Reduced factor XI activity; Type I transferrin isoform profile; Villous atrophy; Vomiting
MYO1E15q22.299.95%gene with protein product601479Autosomal recessive inheritance; Chronic kidney disease; Edema; Focal segmental glomerulosclerosis; Hematuria; Hypoalbuminemia; Nephrotic syndrome; Progressive; Proteinuria; Tubular atrophyNephrotic Syndrome
NPHS119q13.12100%gene with protein product602716Abdominal distention; Abnormality of the renal tubule; Autosomal recessive inheritance; Congenital nephrotic syndrome; Congenital onset; Delayed eruption of permanent teeth; Diffuse mesangial sclerosis; Edema; Elevated amniotic fluid alpha-fetoprotein; Gastroesophageal reflux; Growth delay; Hyperlipidemia; Hypoalbuminemia; Hypoproteinemia; Hypothyroidism; Neonatal respiratory distress; Nephrotic syndrome; Proteinuria; Pyloric stenosis; Rapidly progressive; Recurrent infections; Renal insufficiency; Small for gestational age; Tubular atrophyNephrotic Syndrome
NPHS21q25.2100%gene with protein product604766Autosomal recessive inheritance; Edema; Focal segmental glomerulosclerosis; Hyperlipidemia; Hypoalbuminemia; Juvenile onset; Nephrotic syndrome; Proteinuria; Rapidly progressive; Stage 5 chronic kidney disease; Variable expressivityNephrotic Syndrome
NUP10712q1599.88%gene with protein product607617Aplasia/Hypoplasia of the breasts; Aplasia/hypoplasia of the uterus; Autosomal recessive inheritance; Cognitive impairment; Decreased fertility; Decreased serum estradiol; Delayed puberty; Delayed skeletal maturation; EEG abnormality; Global developmental delay; Gonadal dysgenesis; Hiatus hernia; Hypoalbuminemia; Hypoplasia of the ear cartilage; Increased circulating gonadotropin level; Intrauterine growth retardation; Macrotia; Microcephaly; Minimal change glomerulonephritis; Nephropathy; Nephrotic syndrome; Osteopenia; Osteoporosis of vertebrae; Pachygyria; Premature birth; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Proteinuria; Seizures; Short stature; Sparse pubic hair; Stage 5 chronic kidney disease; Streak ovary; Variable expressivityNephrotic Syndrome
PLCE110q23.3399.98%gene with protein product608414Autosomal recessive inheritance; Childhood onset; Diffuse mesangial sclerosis; Edema; Focal segmental glomerulosclerosis; Hypoalbuminemia; Nephrotic syndrome; Progressive; Proteinuria; Stage 5 chronic kidney diseaseNephrotic Syndrome
PMM216p13.2100%gene with protein product601785CDG1Abnormal subcutaneous fat tissue distribution; Abnormality of the amniotic fluid; Ataxia; Autosomal recessive inheritance; Cardiomyopathy; Depressed nasal bridge; Diarrhea; Elevated hepatic transaminases; Esotropia; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hypoalbuminemia; Hypocholesterolemia; Hyporeflexia; Hypothyroidism; IgA deficiency; IgG deficiency; Inverted nipples; Kyphosis; Macrotia; Microcephaly; Muscle weakness; Nephrotic syndrome; Nonimmune hydrops fetalis; Nystagmus; Olivopontocerebellar hypoplasia; Osteopenia; Pericardial effusion; Polyneuropathy; Premature ovarian insufficiency; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Proteinuria; Proximal tubulopathy; Reduced antithrombin III activity; Reduced factor XI activity; Renal cyst; Rod-cone dystrophy; Seizures; Stroke-like episode; Thin upper lip vermilion; Thrombocytosis; Type I transferrin isoform profile; Vomiting
PRF110q22.1100%gene with protein product170280Anemia; Aplastic anemia; Ataxia; Autosomal recessive inheritance; Bone marrow hypocellularity; Coma; CSF pleocytosis; Encephalitis; Failure to thrive; Generalized edema; Generalized hypotonia; Global developmental delay; Hemiplegia; Hemophagocytosis; Hepatomegaly; Hypertonia; Hypertriglyceridemia; Hypoalbuminemia; Hypofibrinogenemia; Hyponatremia; Hypoproteinemia; Increased CSF protein; Increased intracranial pressure; Increased serum ferritin; Increased total bilirubin; Irritability; Jaundice; Leukopenia; Lymphadenopathy; Lymphoma; Meningitis; Prolonged prothrombin time; Seizures; Splenomegaly; Tetraplegia; ThrombocytopeniaAutoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
PTPRO12p12.399.48%gene with protein product600579Autosomal recessive inheritance; Edema; Focal segmental glomerulosclerosis; Hypoalbuminemia; Nephrotic syndrome; Proteinuria; Tubulointerstitial fibrosis; Variable expressivityNephrotic Syndrome
SAR1B5q31.199.99%gene with protein product607690SARA2Abdominal distention; Abnormality of blood and blood-forming tissues; Abnormality of the eye; Abnormality of vitamin metabolism; Autosomal recessive inheritance; Decreased circulating low-density lipoprotein levels; Diarrhea; Elevated hepatic transaminases; Failure to thrive; Growth delay; Hypoalbuminemia; Hypocholesterolemia; Impaired vibratory sensation; Increased hepatocellular lipid droplets; Infantile onset; Intellectual disability; Malnutrition; Reduced tendon reflexes; Retinopathy; Steatorrhea; Vomiting
SMAD418q21.2100%gene with protein product600993MADH42-3 toe syndactyly; Abdominal pain; Abnormal cardiac septum morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pubic bone; Abnormality of the ribs; Abnormality of the voice; Anemia; Anorexia; Aortic valve stenosis; Autism; Autosomal dominant inheritance; Back pain; Blepharophimosis; Brachydactyly; Broad ribs; Camptodactyly; Cavernous hemangioma; Cholecystitis; Chronic fatigue; Clinodactyly; Coarctation of aorta; Cone-shaped epiphysis; Craniofacial hyperostosis; Cryptorchidism; Deeply set eye; EMG abnormality; Enlarged vertebral pedicles; Epistaxis; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Failure to thrive; Fine hair; Functional intestinal obstruction; Generalized muscle hypertrophy; Global developmental delay; Hamartomatous polyposis; Hearing impairment; Hematochezia; High hypermetropia; Hypermetropia; Hypertelorism; Hypertension; Hypoalbuminemia; Hypokalemia; Hypoplasia of the maxilla; Hypoplastic iliac wing; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Intrauterine growth retardation; Jaundice; Joint stiffness; Large iliac wings; Laryngotracheal stenosis; Limitation of joint mobility; Low-set ears; Lymphadenopathy; Malar flattening; Mandibular prognathia; Microcephaly; Microcytic anemia; Microtia; Midface retrusion; Migraine; Multiple gastric polyps; Narrow mouth; Neoplasm of the pancreas; Overlapping toe; Pancreatic adenocarcinoma; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Poor appetite; Portal hypertension; Prominent nasal bridge; Ptosis; Radial deviation of finger; Seizures; Severe short stature; Short finger; Short long bone; Short neck; Short palm; Short palpebral fissure; Short philtrum; Short stature; Short toe; Skeletal muscle hypertrophy; Somatic mutation; Sparse hair; Specific learning disability; Spontaneous hematomas; Stiff skin; Strabismus; Telangiectasia of the skin; Thick eyebrow; Thickened calvaria; Thickened skin; Thin upper lip vermilion; Thin vermilion border; Vertebral fusion; Visceral angiomatosis; Weight loss
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease
WDR7315q25.2100%gene with protein product616144Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Cognitive impairment; Diffuse mesangial sclerosis; Dysarthria; EEG abnormality; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the ear cartilage; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephropathy; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Premature birth; Progressive extrapyramidal movement disorder; Prominent nose; Proteinuria; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth
ZNF59215q25.2100%gene with protein product613624SCAR5Abnormality of the skin; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Brain atrophy; Camptodactyly; Cataract; Diffuse mesangial sclerosis; Dysarthria; Epicanthus; Flat occiput; Focal segmental glomerulosclerosis; Global developmental delay; Hand clenching; Hiatus hernia; High palate; Hyperreflexia; Hypertelorism; Hypoalbuminemia; Hypopigmentation of the skin; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the iris; Infantile onset; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Low-set ears; Macrotia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscular hypotonia; Narrow nasal ridge; Nephrotic syndrome; Nystagmus; Oligohydramnios; Opacification of the corneal stroma; Optic atrophy; Pachygyria; Pes cavus; Postnatal microcephaly; Progressive extrapyramidal movement disorder; Prominent nose; Ptosis; Renal insufficiency; Seizures; Short stature; Slender finger; Sloping forehead; Small for gestational age; Small nail; Spasticity; Strabismus; Talipes equinovarus; Wide mouth


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