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

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Periodic hypokalemic paresis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CA28q21.2100%gene with protein product611492Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of the renal tubule; Anemia; Aseptic necrosis; Autosomal recessive inheritance; Basal ganglia calcification; Bone pain; Carious teeth; Cerebral calcification; Cranial hyperostosis; Dental malocclusion; Diaphyseal sclerosis; Distal renal tubular acidosis; Elevated serum acid phosphatase; Extramedullary hematopoiesis; Failure to thrive; Genu valgum; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; Intellectual disability; Mandibular prognathia; Optic nerve compression; Osteopetrosis; Periodic hypokalemic paresis; Peripheral neuropathy; Recurrent fractures; Reduced bone mineral density; Short stature; Splenomegaly; Thrombocytopenia; Visual lossAlbinism ; Aplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
CACNA1S1q32.1100%gene with protein product114208HOKPP, MHS5, CACNL1A3Autosomal dominant inheritance; Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypokalemia; Hypomagnesemia; Hyporeflexia; Incomplete penetrance; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
CACNA1S1q32.1100%gene with protein product114208HOKPP, MHS5, CACNL1A3Autosomal dominant inheritance; Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypokalemia; Hypomagnesemia; Hyporeflexia; Incomplete penetrance; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
GABRA3Xq2899.99%gene with protein product305660Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypomagnesemia; Hyporeflexia; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
KCNE311q13.4100%gene with protein product604433Autosomal dominant inheritance; Cardiac arrest; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Increased intramyocellular lipid droplets; Mildly elevated creatine phosphokinase; Periodic hypokalemic paresis; Postprandial hyperglycemia; ST segment elevation; Ventricular fibrillation
KCNJ1817p11.2100%gene with protein productXomeDxSlice is not appropriate.613236Constipation; Decreased urinary potassium; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Graves disease; Hyperhidrosis; Hypomagnesemia; Hyporeflexia; Increased intramyocellular lipid droplets; Lower limb muscle weakness; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle stiffness; Obesity; Palpitations; Periodic hypokalemic paresis; Postprandial hyperglycemia; Rhabdomyolysis; Tetraplegia; Thyrotoxicosis with toxic multinodular goitre; Thyrotoxicosis with toxic single thyroid nodule; Transient hypophosphatemia; Tremor; Urinary retention; Weight loss
KCNJ217q24.3100%gene with protein product600681Antegonial notching of mandible; Atrial fibrillation; Autosomal dominant inheritance; Bidirectional ventricular ectopy; Blepharophimosis; Brachydactyly; Bradycardia; Broad forehead; Bulbous nose; Cleft palate; Clinodactyly of the 5th finger; Clinodactyly of the 5th toe; Delayed eruption of permanent teeth; Delayed skeletal maturation; Depressivity; Facial asymmetry; Growth abnormality; High palate; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Joint laxity; Low-set ears; Malar flattening; Microcephaly; Oligodontia; Palpitations; Paroxysmal atrial fibrillation; Periodic hypokalemic paresis; Persistence of primary teeth; Preauricular pit; Prolonged QT interval; Prominent frontal sinuses; Prominent U wave; Scapular winging; Scoliosis; Short foot; Short mandibular rami; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Shortened QT interval; Slender long bone; Small hand; Syncope; Tachycardia; Thin upper lip vermilion; Toe syndactyly; Triangular face
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
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


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