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
Facial hypotonia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AMPD21p13.3100%gene with protein product102771Abnormality of the periventricular white matter; Abnormality of the pinna; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Cortical visual impairment; Decreased body weight; Downslanted palpebral fissures; Facial hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Macroglossia; Microcephaly; Midface retrusion; Muscular hypotonia of the trunk; Narrow forehead; Optic atrophy; Peripheral axonal neuropathy; Progressive microcephaly; Scissor gait; Seizures; Short stature; Short upper lip; Skeletal muscle atrophy; Spastic paraplegia; Spasticity; Ventriculomegaly
AP4E115q21.2100%gene with protein product607244Abnormality of the voice; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Congenital onset; Decreased muscle mass; Downslanted palpebral fissures; Drooling; Facial hypotonia; Flexion contracture; Global developmental delay; Hyperreflexia; Intellectual disability, severe; Long nose; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Nystagmus; Pointed chin; Prominent antihelix; Seizures; Short philtrum; Short stature; Spastic paraplegia; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal bridge
AP4S114q12100%gene with protein product607243Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebral palsy; Coarse facial features; Congenital onset; Facial hypotonia; Flexion contracture; Global developmental delay; High palate; Hyperreflexia; Hypertelorism; Intellectual disability, severe; Loss of ability to walk; Microcephaly; Muscular hypotonia of the trunk; Prominent nose; Short philtrum; Short stature; Spastic paraplegia; Talipes equinovarus; Thick vermilion border; Wide mouth; Wide nasal bridge
CHAMP113q34100%gene with protein product616327C13orf8, ZNF828Autosomal dominant inheritance; Congenital onset; Epicanthus; Everted lower lip vermilion; Facial hypotonia; Feeding difficulties; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Impaired pain sensation; Intellectual disability; Joint hypermobility; Long face; Low-set ears; Microcephaly; Open mouth; Pointed chin; Recurrent respiratory infections; Short philtrum; Stereotypy; Strabismus; Tented upper lip vermilion; Upslanted palpebral fissure
KDM5CXp11.2299.99%gene with protein product314690SMCX, JARID1C, MRX13Aggressive behavior; Alopecia areata; Babinski sign; Brachydactyly; Cryptorchidism; Deeply set eye; Delayed speech and language development; Diastema; Distal lower limb amyotrophy; Facial hypotonia; Furrowed tongue; High, narrow palate; Hypermetropia; Hyperreflexia; Hypoplasia of the maxilla; Intellectual disability, progressive; Intellectual disability, severe; Large hands; Low frustration tolerance; Lower limb hyperreflexia; Lower limb hypertonia; Macrocephaly; Macrotia; Mandibular prognathia; Micrognathia; Micropenis; Myopia; Pectus excavatum; Progressive spastic paraplegia; Restlessness; Seizures; Short distal phalanx of finger; Short foot; Short stature; Shuffling gait; Small forehead; Smooth philtrum; Spasticity; Talipes calcaneovarus; Talipes equinovarus; Thin upper lip vermilion; Upslanted palpebral fissure; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
POGZ1q21.3100%gene with protein product614787Abnormal electroretinogram; Abnormality of visual evoked potentials; Astigmatism; Autosomal dominant inheritance; Bilateral sensorineural hearing impairment; Brachycephaly; Brachydactyly; Broad nasal tip; Cerebral atrophy; Constipation; Cortical visual impairment; Depressed nasal bridge; Downturned corners of mouth; Facial hypotonia; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hypermetropia; Hypoglycemic seizures; Hypoplasia of the corpus callosum; Intellectual disability; Iris coloboma; Joint laxity; Low-set ears; Mandibular prognathia; Microcephaly; Midface retrusion; Myopia; Open mouth; Optic atrophy; Pointed chin; Posteriorly rotated ears; Rod-cone dystrophy; Self-injurious behavior; Short neck; Short philtrum; Short stature; Strabismus
PPP2R1A19q13.41100%gene with protein product605983Abnormal hair whorl; Anteverted nares; Autosomal dominant inheritance; Broad hallux; Congenital visual impairment; Delayed gross motor development; Delayed myelination; Deviation of the 5th finger; Downslanted palpebral fissures; Facial asymmetry; Facial hypotonia; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Joint hypermobility; Open mouth; Pectus excavatum; Plagiocephaly; Prominent metopic ridge; Seizures; Tented upper lip vermilion; Ventriculomegaly
PPP2R5D6p21.199.91%gene with protein product601646Autosomal dominant inheritance; Chronic diarrhea; Congenital hip dislocation; Congenital muscular torticollis; Deeply set eye; Downslanted palpebral fissures; Facial hypotonia; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypoglycemia; Intellectual disability; Macrocephaly; Myopia; Narrow forehead; Open mouth; Pyloric stenosis; Seizures; Strabismus; Ventriculomegaly
STRADA17q23.3100%gene with protein product608626Astrocytosis; Autosomal recessive inheritance; Difficulty walking; Facial hypotonia; Feeding difficulties; Generalized hypotonia; Global developmental delay; Inability to walk; Intellectual disability; Megalencephaly; Open mouth; Seizures; Strabismus; Ventriculomegaly
TBCD17q25.3100%gene with protein product604649Arthrogryposis multiplex congenita; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; CNS hypomyelination; Constipation; Developmental regression; Diffuse cerebral atrophy; Encephalopathy; Facial hypotonia; Feeding difficulties; Gliosis; Global developmental delay; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Micrognathia; Muscle weakness; Neuronal loss in central nervous system; Optic atrophy; Postnatal microcephaly; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Sparse eyebrow; Spastic tetraplegia; Tongue fasciculations; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Widely spaced teeth
VPS13B8q22.2100%gene with protein product607817CHS1, COH1Abnormality of skin pigmentation; Aplasia/Hypoplasia of the tongue; Arachnodactyly; Autosomal recessive inheritance; Cat cry; Cerebellar hypoplasia; Childhood-onset truncal obesity; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Convex nasal ridge; Cubitus valgus; Decreased fetal movement; Delayed puberty; Downslanted palpebral fissures; Facial hypotonia; Failure to thrive in infancy; Feeding difficulties in infancy; Finger syndactyly; Generalized hypotonia; Genu valgum; Gingival overgrowth; Global developmental delay; Growth hormone deficiency; High, narrow palate; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Laryngomalacia; Leukopenia; Long eyelashes; Low anterior hairline; Lumbar hyperlordosis; Macrodontia; Macrodontia of permanent maxillary central incisor; Microcephaly; Micrognathia; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow palm; Neonatal hypotonia; Neurological speech impairment; Neutropenia; Obesity; Open mouth; Optic atrophy; Pes planus; Prominent nasal bridge; Reduced number of teeth; Reduced visual acuity; Sandal gap; Seizures; Short metacarpal; Short metatarsal; Short philtrum; Short stature; Single transverse palmar crease; Slender toe; Small for gestational age; Tapered finger; Thick corpus callosum; Thick eyebrow; Thick hair; Thoracic scoliosis; Visual impairment; Weak cryAplastic Anemia ; Bone Marrow Failure Syndromes ; Obesity
XYLT217q21.33100%gene with protein product608125Abnormal eyebrow morphology; Abnormality of the intervertebral disk; Amblyopia; Aplasia/Hypoplasia of the lens; Atrial septal defect; Autosomal recessive inheritance; Cataract; Disproportionate short-trunk short stature; Facial hypotonia; Hypertelorism; Iris hypopigmentation; Long fingers; Long toe; Low posterior hairline; Low-set ears; Microphthalmia; Mitral valve prolapse; Muscle weakness; Nystagmus; Osteopenia; Osteoporosis; Pes planus; Platyspondyly; Posteriorly rotated ears; Retinal detachment; Sensorineural hearing impairment; Shield chest; Short neck; Thoracic kyphosis; Ventricular septal defect; Vertebral compression fractures; Visual loss; Webbed neck


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