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
Bifid nose

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ALX411p11.2100%gene with protein product605420PFM2Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Anteverted nares; Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nasal tip; Bifid nose; Brachycephaly; Broad nasal tip; Broad philtrum; Calvarial skull defect; Cerebellar vermis hypoplasia; Conical tooth; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased skull ossification; Depressed nasal bridge; Depressed nasal ridge; Depressed nasal tip; Dolichocephaly; Downturned corners of mouth; Encephalocele; Epicanthus; Exostoses; Fine hair; Frontal bossing; Global developmental delay; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Intellectual disability, mild; Intellectual disability, moderate; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Nystagmus; Oligohydramnios; Parietal foramina; Prominent nasal bridge; Scrotal hypoplasia; Seizures; Short palpebral fissure; Short philtrum; Sparse and thin eyebrow; Sparse eyelashes; Strabismus; Symmetrical, oval parietal bone defects; Telecanthus; Underdeveloped nasal alae; Upslanted palpebral fissure; Variable expressivity; Wide nasal bridge
FREM19p22.3100%gene with protein product608944C9orf154Abnormal hair pattern; Abnormality of the 5th toe; Abnormality of the hair; Abnormality of the kidney; Anal stenosis; Anophthalmia; Anteriorly placed anus; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nose; Bulbous nose; Eyelid coloboma; Hypertelorism; Hypotelorism; Metopic synostosis; Microphthalmia; Nasolacrimal duct obstruction; Omphalocele; Prominent supraorbital ridges; Rectovaginal fistula; Renal agenesis; Short lingual frenulum; Short philtrum; Synophrys; Trigonocephaly; Upper eyelid coloboma; Wide nasal bridgeCongenital Kidney and Urinary Tract (CKUT) Anomalies; Ectodermal Dysplasia ; Fanconi Anemia
FREM19p22.3100%gene with protein product608944C9orf154Abnormal hair pattern; Abnormality of the 5th toe; Abnormality of the hair; Abnormality of the kidney; Anal stenosis; Anophthalmia; Anteriorly placed anus; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nose; Bulbous nose; Eyelid coloboma; Hypertelorism; Hypotelorism; Metopic synostosis; Microphthalmia; Nasolacrimal duct obstruction; Omphalocele; Prominent supraorbital ridges; Rectovaginal fistula; Renal agenesis; Short lingual frenulum; Short philtrum; Synophrys; Trigonocephaly; Upper eyelid coloboma; Wide nasal bridgeCongenital Kidney and Urinary Tract (CKUT) Anomalies; Ectodermal Dysplasia ; Fanconi Anemia
HYLS111q24.2100%gene with protein product610693Abnormal cortical gyration; Abnormality of cardiovascular system morphology; Abnormality of the sense of smell; Abnormality of the vagina; Absent septum pellucidum; Accessory spleen; Adrenal gland dysgenesis; Agenesis of corpus callosum; Agenesis of the diaphragm; Apnea; Arrhinencephaly; Ataxia; Autosomal recessive inheritance; Bifid nose; Bifid uvula; Biparietal narrowing; Broad neck; Cerebellar vermis hypoplasia; Dandy-Walker malformation; Deeply set eye; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Gingival cleft; Global developmental delay; Heterotopia; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Laryngomalacia; Long face; Low-set, posteriorly rotated ears; Median cleft lip; Micrognathia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Omphalocele; Polyhydramnios; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proximal tibial hypoplasia; Retrognathia; Submucous cleft hard palate; Tracheal atresia; Unilateral cleft lip; Ventricular septal defect
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly
ZSWIM65q12.197.28%gene with protein product615951Agenesis of corpus callosum; Autosomal dominant inheritance; Bifid nose; Brachycephaly; Broad nasal tip; Choroid plexus cyst; Cleft palate; Cleft upper lip; Encephalocele; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Large sella turcica; Meningocele; Preaxial polydactyly; Retrocerebellar cyst; Seizures; Syndactyly; Talipes equinovarus; Telecanthus; Thick nail; Thick nasal alae; Ventriculomegaly


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