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
Microphallus

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
GATA48p23.1100%gene with protein product600576Abnormal nasal morphology; Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Ambiguous genitalia; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Azoospermia; Biparietal narrowing; Brachydactyly; Broad forehead; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dolichocephaly; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged thorax; Epicanthus; External ear malformation; Female external genitalia in individual with 46,XY karyotype; Global developmental delay; Gonadal dysgenesis; Gynecomastia; High forehead; High palate; Hypergonadotropic hypogonadism; Hypoplasia of the vagina; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Low-set ears; Male infertility; Microcephaly; Micrognathia; Micropenis; Microphallus; Osteoporosis; Perineal hypospadias; Poor speech; Preauricular pit; Primary amenorrhea; Primum atrial septal defect; Proptosis; Pulmonary artery stenosis; Seizures; Short neck; Short nose; Short stature; Sparse axillary hair; Sparse pubic hair; Streak ovary; Tapered finger; Testicular dysgenesis; Tetralogy of Fallot; Thin vermilion border; Underdeveloped supraorbital ridges; Urogenital sinus anomaly; Vanishing testis; Ventricular septal defect; Weight loss; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development; Heterotaxy
ICK6p12.1100%gene with protein product612325Abnormality of the pinna; Adrenal hypoplasia; Ambiguous genitalia; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Cleft palate; Cleft upper lip; Cryptorchidism; Depressed nasal tip; Holoprosencephaly; Hydrocephalus; Hypospadias; Low-set ears; Malar flattening; Micrognathia; Micromelia; Micropenis; Microphallus; Midface retrusion; Postaxial polydactyly; Sandal gap; Scrotal hypoplasia; Shield chest; Syndactyly; Ulnar deviation of the hand; Ventriculomegaly; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
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
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
TACR34q24100%gene with protein product162332Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Male hypogonadism; Micropenis; Microphallus; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Wide intermamillary distanceDisorders of Sex Development


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