XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Pancreatitis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB47q21.12100%gene with protein product171060PGY3, MDR3Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Cholangitis; Cholecystitis; Cholelithiasis; Cholesterol gallstones; Cirrhosis; Diarrhea; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fetal distress; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Increased serum bile acid concentration during pregnancy; Infantile onset; Intrahepatic cholestasis; Jaundice; Malabsorption; Pancreatitis; Portal fibrosis; Premature birth; Pruritus; Splenomegaly
AP2S119q13.32100%gene with protein product602242CLAPS2, HHC3Autosomal dominant inheritance; Bone pain; Chondrocalcinosis; Hypercalcemia; Hypermagnesemia; Hypocalciuria; Hypophosphatemia; Multiple lipomas; Osteomalacia; Pancreatitis; Parathormone-independent increased renal tubular calcium reabsorption; Primary hyperparathyroidism
APOC219q13.32100%gene with protein product608083Autosomal recessive inheritance; Eruptive xanthomas; Hepatomegaly; Hypertriglyceridemia; Lipemia retinalis; Pancreatitis; Splenomegaly
ATP8B118q21.31100%gene with protein product602397FIC1, BRIC, PFIC1Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cirrhosis; Conjugated hyperbilirubinemia; Diarrhea; Failure to thrive; Fat malabsorption; Fetal distress; Hearing impairment; Hepatomegaly; Increased serum bile acid concentration; Increased serum bile acid concentration during pregnancy; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Intrahepatic cholestasis with episodic jaundice; Jaundice; Pancreatitis; Premature birth; Pruritus; Severe short stature; Splenomegaly
BCKDHA19q13.2100%gene with protein product608348OVD1AAtaxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
BCKDHB6q14.199.91%gene with protein product248611Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CBS21q22.399.94%gene with protein product613381Abnormality of amino acid metabolism; Amblyopia; Arachnodactyly; Arterial thrombosis; Arteriovenous malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Brittle hair; Cerebral ischemia; Cutis marmorata; Dental crowding; Depressivity; Disproportionate tall stature; Ectopia lentis; Generalized osteoporosis; Genu valgum; Glaucoma; Hepatic steatosis; High palate; Homocystinuria; Hypertension; Hypopigmentation of the skin; Inguinal hernia; Intellectual disability; Joint stiffness; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Mitral valve prolapse; Myocardial infarction; Myopia; Osteoporosis; Pancreatitis; Pectus carinatum; Pectus excavatum; Personality disorder; Pulmonary embolism; Recurrent fractures; Scoliosis; Seizures; Sparse scalp hair; Stroke; Tall stature; Thromboembolism; Venous thrombosis
CIDEC3p25.3100%gene with protein product612120Acanthosis nigricans; Autosomal recessive inheritance; Calf muscle hypertrophy; Decreased adiponectin level; Decreased serum leptin; Hepatic steatosis; Hepatomegaly; Hypertriglyceridemia; Insulin-resistant diabetes mellitus; Lipodystrophy; Loss of gluteal subcutaneous adipose tissue; Loss of subcutaneous adipose tissue in limbs; Marked muscular hypertrophy; Oligomenorrhea; Pancreatitis; Polycystic ovaries
DBT1p21.299.89%gene with protein product248610Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
G6PC17q21.31100%gene with protein product613742G6PTAbnormal bleeding; Autosomal recessive inheritance; Decreased glomerular filtration rate; Decreased muscle mass; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Intermittent diarrhea; Lactic acidosis; Lipemia retinalis; Nephrolithiasis; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Short stature; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
IFT1722p23.3100%gene with protein product607386Abnormal electroretinogram; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Bell-shaped thorax; Blindness; Brachydactyly; Cataract; Cholestasis; Chronic kidney disease; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Micromelia; Multicystic kidney dysplasia; Narrow chest; Nephronophthisis; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pancreatitis; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Respiratory insufficiency; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Splenomegaly; Thoracic dysplasia; Thoracic hypoplasia; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity; Short-Rib Thoracic Dysplasia
LPL8p21.399.86%gene with protein product609708LIPDAutosomal dominant inheritance; Autosomal recessive inheritance; Episodic abdominal pain; Eruptive xanthomas; Hepatosplenomegaly; Hypercholesterolemia; Increased circulating chylomicron levels; Increased circulating low-density lipoprotein levels; Increased circulating very-low-density lipoprotein levels; Jaundice; Lactescent serum; Lipemia retinalis; Myocardial infarction; Nausea; Pancreatitis; Splenomegaly; Vomiting
MUT6p12.399.98%gene with protein product609058Abnormal globus pallidus morphology; Anorexia; Autosomal recessive inheritance; Cardiomyopathy; Coma; Dehydration; Delayed CNS myelination; Dysarthria; Dystonia; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Immunodeficiency; Intellectual disability; Lethargy; Leukopenia; Metabolic ketoacidosis; Methylmalonic acidemia; Methylmalonic aciduria; Muscular hypotonia; Nausea and vomiting; Pancreatitis; Respiratory distress; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Tubulointerstitial nephritis; Vomiting
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PRSS17q34100%gene with protein product276000TRY1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Diabetes mellitus; Elevated C-reactive protein level; Exocrine pancreatic insufficiency; Failure to thrive; Fever; Hypoproteinemia; Leukocytosis; Pancreatic calcification; Pancreatic pseudocyst; Pancreatitis; Pleural effusion; Recurrent pancreatitis; Steatorrhea
SLC25A137q21.3100%gene with protein product603859CTLN2Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Confusion; Decreased circulating high-density lipoprotein levels; Elevated hepatic transaminases; Elevated plasma citrulline; Failure to thrive; Growth delay; Hepatic steatosis; Hepatocellular carcinoma; Hyperammonemia; Hyperbilirubinemia; Hypercholesterolemia; Hypermethioninemia; Hypertriglyceridemia; Intrahepatic cholestasis; Pancreatitis
SLC37A411q23.3100%gene with protein product602671G6PT1, G6PT2, G6PT3Autosomal recessive inheritance; Chronic pancreatitis; Decreased glomerular filtration rate; Delayed puberty; Doll-like facies; Elevated hepatic transaminases; Enlarged kidney; Focal segmental glomerulosclerosis; Gout; Hematuria; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Hyperlipidemia; Hypertension; Hypoglycemia; Ketosis; Lactic acidosis; Lipemia retinalis; Metabolic acidosis; Nephrolithiasis; Neutropenia; Oral ulcer; Osteoporosis; Pancreatitis; Proteinuria; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent bacterial infections; Renal insufficiency; Short stature; Spider hemangioma; XanthelasmaAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
SLC7A714q11.2100%gene with protein product603593LPIAlveolar proteinosis; Aminoaciduria; Anemia; Autosomal recessive inheritance; Cutis laxa; Delayed skeletal maturation; Diarrhea; Failure to thrive; Fine hair; Generalized hypotonia; Hemophagocytosis; Hepatomegaly; Hyperammonemia; Hyperextensible skin; Increased serum ferritin; Infantile onset; Leukopenia; Malnutrition; Muscle weakness; Nausea; Oroticaciduria; Osteoporosis; Pancreatitis; Phenotypic variability; Pulmonary hemorrhage; Recurrent fractures; Respiratory insufficiency; Short stature; Skeletal muscle atrophy; Sparse hair; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Truncal obesity; VomitingAutoimmune Disorders
SPINK15q32100%gene with protein product167790Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chronic pancreatitis; Diabetes mellitus; Elevated C-reactive protein level; Exocrine pancreatic insufficiency; Fever; Insulin-dependent but ketosis-resistant diabetes; Leukocytosis; Neoplasm of the pancreas; Pancreatic calcification; Pancreatic pseudocyst; Pancreatitis; Pleural effusion; Recurrent pancreatitis; Steatorrhea


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