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
Progressive distal muscle weakness

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
LDB310q23.2100%gene with protein product605906CMD1CAutophagic vacuoles; Autosomal dominant inheritance; Cardiomyopathy; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Hyporeflexia of lower limbs; Late onset; Muscle fiber splitting; Myofibrillar myopathy; Polyneuropathy; Progressive distal muscle weakness; Progressive proximal muscle weaknessRhabdomyolysis
MYOT5q31.299.92%gene with protein product604103TTID, LGMD1A, LGMD1Absent Achilles reflex; Achilles tendon contracture; Adult onset; Areflexia; Autophagic vacuoles; Autosomal dominant inheritance; Broad-based gait; Cardiomyopathy; Difficulty climbing stairs; Difficulty standing; Distal amyotrophy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Heterogeneous; Hip flexor weakness; Hyporeflexia; Hyporeflexia of lower limbs; Inability to walk; Increased endomysial connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limited elbow flexion; Limited knee flexion/extension; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle stiffness; Muscular dystrophy; Myalgia; Myofibrillar myopathy; Myopathy; Nasal speech; Nasal, dysarthic speech; Neck flexor weakness; Onset; Pelvic girdle muscle weakness; Polyneuropathy; Progressive distal muscle weakness; Proximal amyotrophy; Proximal muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; Variable expressivity; Waddling gaitRhabdomyolysis
TRPV412q24.11100%gene with protein product605427Abducens palsy; Abnormal cortical bone morphology; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormal metaphyseal vascular invasion; Abnormality of the eye; Abnormality of the face; Abnormality of the foot; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the rib cage; Abnormality of the ribs; Absent primary metaphyseal spongiosa; Amyoplasia; Anisospondyly; Areflexia; Arthrogryposis multiplex congenita; Arthropathy; Autosomal dominant inheritance; Barrel-shaped chest; Brachydactyly; Brachytelomesophalangy; Broad-based gait; Cachexia; Carpal bone hypoplasia; Caudal appendage; Childhood-onset short-trunk short stature; Clinodactyly; Coxa vara; Decreased distal sensory nerve action potential; Decreased fetal movement; Delayed skeletal maturation; Depressed nasal bridge; Diaphragmatic weakness; Disproportionate short-trunk short stature; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Dumbbell-shaped metaphyses; Elbow flexion contracture; Elevated serum creatine phosphokinase; Enlarged joints; Epiphyseal dysplasia; Facial palsy; Flared femoral metaphysis; Flared humeral metaphysis; Flared metaphysis; Flat acetabular roof; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Genu valgum; Gowers sign; Halberd-shaped pelvis; Hammertoe; Hand muscle atrophy; High forehead; Hip contracture; Hip dysplasia; Hyperlordosis; Hypermetropia; Hyperplasia of the femoral trochanters; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hyporeflexia; Incomplete penetrance; Increased vertebral height; Intercostal muscle weakness; Irregular acetabular roof; Irregular, rachitic-like metaphyses; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long coccyx; Long thorax; Metatarsus adductus; Micromelia; Motor delay; Motor polyneuropathy; Muscle fiber splitting; Muscular hypotonia; Narrow chest; Nonprogressive; Nonprogressive muscular atrophy; Obstructive sleep apnea; Oculomotor nerve palsy; Onset; Osteoarthritis of the small joints of the hand; Pectus carinatum; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Platyspondyly; Progressive distal muscle weakness; Progressive distal muscular atrophy; Proximal femoral metaphyseal irregularity; Proximal lower limb amyotrophy; Radial deviation of finger; Relatively short spine; Respiratory failure; Rough bone trabeculation; Scapular muscle atrophy; Scapular winging; Scapuloperoneal amyotrophy; Scoliosis; Sensorineural hearing impairment; Sensory neuropathy; Severe carpal ossification delay; Severe short stature; Short distal phalanx of finger; Short distal phalanx of toe; Short femoral neck; Short finger; Short middle phalanx of finger; Short middle phalanx of toe; Short neck; Short stature; Short thorax; Shortening of all distal phalanges of the toes; Shortening of all middle phalanges of the toes; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small hand; Spinal cord compression; Spinal muscular atrophy; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stridor; Talipes equinovarus; Torticollis; Urinary incontinence; Urinary urgency; Variable expressivity; Vocal cord paresis; Waddling gait


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