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"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

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
Hyperkalemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB62q35100%gene with protein product605452Autosomal dominant inheritance; Coloboma; Cutaneous photosensitivity; Freckling; Hearing impairment; Hyperkalemia; Hypermelanotic macule; Hypertension; Multiple cafe-au-lait spots; Spotty hypopigmentation; StomatocytosisHemolytic Anemia
CA1215q22.2100%gene with protein product603263Autosomal dominant inheritance; Autosomal recessive inheritance; Dehydration; Failure to thrive; Feeding difficulties; Hyperkalemia; Hyponatremia; Infantile onsetPalmoplantar keratoderma plus congenital ichthyosis
CUL32q36.299.99%gene with protein product603136Autosomal dominant inheritance; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperkalemia; Hypertension; Metabolic acidosis; Pseudohypoaldosteronism
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
CYP11B28q24.399.9%gene with protein product124080CYP11BAbnormal circulating renin; Adrenal hyperplasia; Autosomal recessive inheritance; Decreased circulating aldosterone level; Dehydration; Dexamethasone-suppresible primary hyperaldosteronism; Episodic fever; Failure to thrive; Feeding difficulties in infancy; Growth delay; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Neonatal onset; Orthostatic hypotension; Renal salt wasting; Vomiting
CYP11B28q24.399.9%gene with protein product124080CYP11BAbnormal circulating renin; Adrenal hyperplasia; Autosomal recessive inheritance; Decreased circulating aldosterone level; Dehydration; Dexamethasone-suppresible primary hyperaldosteronism; Episodic fever; Failure to thrive; Feeding difficulties in infancy; Growth delay; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Neonatal onset; Orthostatic hypotension; Renal salt wasting; Vomiting
HSD3B21p12100%gene with protein product613890Abnormal oral glucose tolerance; Abnormal sex determination; Abnormality of the menstrual cycle; Absence of secondary sex characteristics; Absent scrotum; Accelerated skeletal maturation; Acidosis; Adrenal hyperplasia; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Autosomal recessive inheritance; Bifid scrotum; Clitoral hypertrophy; Congenital adrenal hyperplasia; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized hyperpigmentation; Glucose intolerance; Gynecomastia; Hyperkalemia; Hypernatriuria; Hyperpigmented genitalia; Hyponatremia; Hypospadias; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Insulin resistance; Male pseudohermaphroditism; Micropenis; Neonatal hypoglycemia; Osteoporosis; Perineal hypospadias; Premature adrenarche; Premature pubarche; Renal salt wasting; Urogenital sinus anomaly; VomitingDisorders of Sex Development
INVS9q31.199.97%gene with protein product243305NPHP2Abnormality of retinal pigmentation; Absence of renal corticomedullary differentiation; Autosomal recessive inheritance; Chronic tubulointerstitial nephritis; Elevated serum creatinine; Enlarged kidney; Global developmental delay; Hyperechogenic kidneys; Hyperkalemia; Hyperkalemic metabolic acidosis; Hypertension; Nephronophthisis; Oligohydramnios; Premature ovarian insufficiency; Progressive visual loss; Pulmonary hypoplasia; Pulmonary insufficiency; Renal cortical microcysts; Respiratory failure; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Visual impairmentHeterotaxy
KLHL35q31.2100%gene with protein product605775Autosomal dominant inheritance; Autosomal recessive inheritance; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperkalemia; Hypertension; Pseudohypoaldosteronism
LPIN12p25.1100%gene with protein product605518Acute kidney injury; Acute rhabdomyolysis; Areflexia; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Fever; Hyperkalemia; Hyporeflexia; Muscle weakness; Myalgia; MyoglobinuriaRhabdomyolysis
NR3C24q3199.95%gene with protein product600983MLRAutosomal dominant inheritance; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Infantile onset; Maternal hypertension; Metabolic acidosis; Phenotypic variability; Pseudohypoaldosteronism; Vomiting
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
SAMD97q21.2100%gene with protein product610456C7orf5Abnormality of the skin; Adrenal insufficiency; Aspiration pneumonia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calcinosis; Chronic diarrhea; Conjunctivitis; Cryptorchidism; Decreased body weight; Decreased testicular size; Gastroesophageal reflux; Gingivitis; Global developmental delay; Hypergonadotropic hypogonadism; Hyperkalemia; Hypoglycemia; Hyponatremia; Hypospadias; Intrauterine growth retardation; Microphallus; Motor delay; Overlapping fingers; Patent ductus arteriosus; Petechiae; Radial club hand; Recurrent bacterial infections; Recurrent urinary tract infections; Rocker bottom foot; Scoliosis; Sepsis; Short stature; Talipes equinovarusAplastic Anemia ; Bone Marrow Failure Syndromes
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SCNN1A12p13100%gene with protein product600228SCNN1Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Chronic bronchitis; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal salt wasting; Vomiting
SCNN1B16p12.2-p12.100%gene with protein product600760Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SCNN1G16p12.2100%gene with protein product600761Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
WNK112p13.33100%gene with protein product605232PRKWNK1, HSN2Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperhidrosis; Hyperkalemia; Hyperlordosis; Hypertension; Hyporeflexia; Infantile onset; Metabolic acidosis; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Paronychia; Peripheral neuropathy; Pseudohypoaldosteronism; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Tapered finger; Wormian bones
WNK417q21.2100%gene with protein product601844PRKWNK4Autosomal dominant inheritance; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperkalemia; Hypertension; Pseudohypoaldosteronism


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