XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Anal stenosis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CCNQXq2899.95%gene with protein product300708FAM58AAbnormal cardiac septum morphology; Anal atresia; Anal stenosis; Bicornuate uterus; Bicuspid aortic valve; Broad nasal tip; Bulbous nose; Clinodactyly of the 5th finger; Clitoral hypertrophy; Ectopic kidney; Horseshoe kidney; Intrauterine growth retardation; Labial hypoplasia; Lop ear; Narrow nose; Pelvic kidney; Peripheral pulmonary artery stenosis; Rectovaginal fistula; Renal agenesis; Renal insufficiency; Short stature; Small for gestational age; Telecanthus; Thin upper lip vermilion; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; X-linked dominant inheritance
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
FRAS14q21.21100%gene with protein product607830Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
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
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
FREM213q13.3100%gene with protein product608945Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia
GRIP112q14.3100%gene with protein product604597Abnormal cortical gyration; Abnormal heart morphology; Abnormality of the anus; Abnormality of the pinna; Abnormality of the small intestine; Abnormality of the thymus; Abnormality of the umbilicus; Absent eyebrow; Absent eyelashes; Ambiguous genitalia; Anal atresia; Anal stenosis; Anophthalmia; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the sternum; Aplasia/Hypoplasia of the thumb; Atresia of the external auditory canal; Autosomal recessive inheritance; Bicornuate uterus; Bifid tongue; Bilateral microphthalmos; Blindness; Calvarial skull defect; Choanal stenosis; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypertrophy; Conductive hearing impairment; Corneal opacity; Cryptophthalmos; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dental crowding; Dental malocclusion; Depressed nasal bridge; Difficulty in tongue movements; Encephalocele; Extension of hair growth on temples to lateral eyebrow; External ear malformation; Facial cleft; Female pseudohermaphroditism; Finger syndactyly; Hydrocephalus; Hypertelorism; Hypoplasia of penis; Hypoplastic superior helix; Hypospadias; Intellectual disability; Lacrimal duct aplasia; Laryngeal atresia; Laryngeal stenosis; Laryngeal web; Low-set ears; Low-set, posteriorly rotated ears; Malformed lacrimal ducts; Microcephaly; Micropenis; Microphthalmia; Midline nasal groove; Morphological abnormality of the middle ear; Multicystic kidney dysplasia; Myelomeningocele; Pulmonary hypoplasia; Renal hypoplasia; Renal hypoplasia/aplasia; Scrotal hypoplasia; Severe T-cell immunodeficiency; Subglottic stenosis; Toe syndactyly; Underdeveloped nasal alae; Upper eyelid coloboma; Vaginal atresia; Wide intermamillary distance; Wide nasal bridge; Wide nose; Wide pubic symphysisCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Fanconi Anemia ; Heterotaxy
KDM6AXp11.399.9%gene with protein product300128UTXAbnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the breast; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Behavioral abnormality; Blue sclerae; Broad nasal tip; Butterfly vertebrae; Cafe-au-lait spot; Central hypotonia; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Decreased body weight; Dental malocclusion; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Neonatal hypoglycemia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth; X-linked dominant inheritance
KMT2D12q13.12100%gene with protein product602113TNRC21, MLL2Abnormal cardiac septum morphology; Abnormal dermatoglyphics; Abnormal vertebral morphology; Abnormality of the dentition; Anal atresia; Anal stenosis; Anoperineal fistula; Atrial septal defect; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Blue sclerae; Butterfly vertebrae; Cafe-au-lait spot; Cerebral cortical atrophy; Cleft palate; Coarctation of aorta; Conductive hearing impairment; Congenital hip dislocation; Congenital hypothyroidism; Crossed fused renal ectopia; Cryptorchidism; Depressed nasal tip; Eversion of lateral third of lower eyelids; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemivertebrae; Hemolytic anemia; High palate; Highly arched eyebrow; Hirsutism; Hydrocephalus; Hypodontia; Intellectual disability; Intestinal malrotation; Joint hyperflexibility; Joint hypermobility; Long eyelashes; Long palpebral fissure; Macrotia; Malabsorption; Microcephaly; Microdontia; Micropenis; Muscular hypotonia; Posteriorly rotated ears; Postnatal growth retardation; Preauricular pit; Premature thelarche; Prominent eyelashes; Prominent fingertip pads; Protruding ear; Ptosis; Recurrent aspiration pneumonia; Recurrent infections; Recurrent otitis media; Scoliosis; Seizures; Sensorineural hearing impairment; Short 5th finger; Short columella; Short middle phalanx of finger; Short stature; Sparse and thin eyebrow; Sparse lateral eyebrow; Strabismus; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Wide nasal bridge; Widely spaced teeth
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MNX17q36.395.91%gene with protein product142994HLXB9Abdominal distention; Anal atresia; Anal fistula; Anal stenosis; Anterior sacral meningocele; Aplasia/Hypoplasia of the sacrum; Autosomal dominant inheritance; Bicornuate uterus; Chronic constipation; Gastrointestinal obstruction; Global developmental delay; Horseshoe kidney; Incomplete penetrance; Neurogenic bladder; Perianal abscess; Presacral teratoma; Rectovaginal fistula; Recurrent urinary tract infections; Sacrococcygeal teratoma; Septate vagina; Tethered cord; Urinary incontinence; Vesicoureteral refluxDisorders of Sex Development; VACTERL Association
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
NBN8q21.399.42%gene with protein product602667NBS, NBS1Abnormal hair quantity; Abnormality of chromosome stability; Abnormality of the fallopian tube; Acute lymphoblastic leukemia; Anal atresia; Anal stenosis; Aplastic anemia; Attention deficit hyperactivity disorder; Autoimmune hemolytic anemia; Autosomal recessive inheritance; B lymphocytopenia; Bone marrow hypocellularity; Breast carcinoma; Bronchiectasis; Cachexia; Cafe-au-lait spot; Choanal atresia; Chronic diarrhea; Cleft palate; Cleft upper lip; Convex nasal ridge; Decrease in T cell count; Deep philtrum; Depressed nasal bridge; Diarrhea; Dysgammaglobulinemia; Glioma; Hearing abnormality; Hydronephrosis; Hyperactivity; Intellectual disability; Intrauterine growth retardation; Long nose; Low anterior hairline; Lymphoma; Macrotia; Malar prominence; Mastoiditis; Medulloblastoma; Mental deterioration; Microcephaly; Micrognathia; Neurodegeneration; Otitis media; Ovarian neoplasm; Pollakisuria; Polygenic inheritance; Premature ovarian insufficiency; Primary peritoneal carcinoma; Progressive vitiligo; Prominent nasal bridge; Prominent nose; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent urinary tract infections; Retrognathia; Rhabdomyosarcoma; Short neck; Short stature; Sinusitis; Sloping forehead; Thrombocytopenia; Upslanted palpebral fissureAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
PIGN18q21.3398.85%gene with protein product606097Abnormal cardiac septum morphology; Absent speech; Agenesis of corpus callosum; Amblyopia; Anal atresia; Anal stenosis; Anteverted nares; Aplasia/Hypoplasia of the nipples; Atrial septal defect; Autosomal recessive inheritance; Broad forehead; Cerebral atrophy; Cerebral cortical atrophy; Choreoathetosis; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Congenital onset; Corneal opacity; Cryptorchidism; Cupped ear; Depressed nasal bridge; Epicanthus; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic fingernail; Hyporeflexia; Intellectual disability; Large fleshy ears; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Median cleft lip; Micrognathia; Multicystic kidney dysplasia; Narrow forehead; Non-midline cleft lip; Nystagmus; Open mouth; Overfolded helix; Patent ductus arteriosus; Polyhydramnios; Posteriorly rotated ears; Pulmonary hypoplasia; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short neck; Short nose; Spasticity; Tented upper lip vermilion; Tetralogy of Fallot; Thickened nuchal skin fold; Thin vermilion border; Tremor; Variable expressivity; Wide intermamillary distance; Wide mouth; Wide nasal bridge
PIGO9p13.3100%gene with protein product614730Anal atresia; Anal stenosis; Autosomal recessive inheritance; Broad hallux; Broad nasal tip; Congenital onset; Delayed speech and language development; Elevated alkaline phosphatase; Generalized hypotonia; Growth delay; Hypertelorism; Intellectual disability; Long palpebral fissure; Short nose; Shortening of all distal phalanges of the fingers; Tented upper lip vermilion; Wide nasal bridge
PITX24q25100%gene with protein product601542IRID2, IHG2, RIEG, RIEG1, RGSAbnormal anterior chamber morphology; Abnormal cornea morphology; Abnormal facial shape; Abnormality of cardiovascular system morphology; Abnormality of the abdominal wall; Abnormality of the conjunctiva; Abnormality of the dentition; Abnormally prominent line of Schwalbe; Anal atresia; Anal stenosis; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Autosomal dominant inheritance; Autosomal recessive inheritance; Central opacification of the cornea; Congenital glaucoma; Corneal opacity; Everted lower lip vermilion; Glaucoma; Growth hormone deficiency; Hearing impairment; Heterogeneous; Hypodontia; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplastic iris stroma; Hypospadias; Iris hypopigmentation; Megalocornea; Microcornea; Midface retrusion; Peters anomaly; Polycoria; Posterior embryotoxon; Prominent supraorbital ridges; Rieger anomaly; Short philtrum; Strabismus; Subcapsular cataract; Thin upper lip vermilion; Thinning of Descemet membrane; Variable expressivity; Wide nasal bridge
RIPK421q22.3100%gene with protein product605706ANKRD3Absent eyebrow; Absent eyelashes; Absent thumb; Alopecia totalis; Ambiguous genitalia; Anal stenosis; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia of the distal phalanges of the toes; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Cleft palate; Cleft upper lip; Corneal opacity; Eyelid coloboma; Facial cleft; Finger syndactyly; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Narrow mouth; Popliteal pterygium; Short nose; Short phalanx of finger; Small nail; Sparse or absent eyelashes; Syndactyly; Synostosis of joints; Talipes; Toe syndactyly; Underdeveloped nasal alaeDisorders of Sex Development
SALL116q12.1100%gene with protein product602218TBS2-3 toe syndactyly; 3-4 finger syndactyly; 3-4 toe syndactyly; Anal atresia; Anal stenosis; Anteriorly placed anus; Aplasia/Hypoplasia of the 3rd toe; Autosomal dominant inheritance; Bifid scrotum; Bifid uterus; Broad thumb; Chorioretinal coloboma; Clinodactyly of the 5th finger; Constipation; Cryptorchidism; Duodenal atresia; External ear malformation; Gastroesophageal reflux; Hearing impairment; Hypospadias; Hypothyroidism; Intellectual disability; Macrotia; Metatarsal synostosis; Microcephaly; Microtia; Overfolded helix; Overfolding of the superior helices; Partial duplication of thumb phalanx; Pes planus; Preauricular skin tag; Preaxial hand polydactyly; Pseudoepiphyses of second metacarpal; Rectoperineal fistula; Rectovaginal fistula; Renal insufficiency; Satyr ear; Short metatarsal; Stahl ear; Subcutaneous nodule; Tetralogy of Fallot; Toe clinodactyly; Triphalangeal thumb; Umbilical hernia; Urethral valve; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; VACTERL Association
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
SMO7q32.199.96%gene with protein product601500SMOHAbnormality of the skin; Agenesis of corpus callosum; Anal stenosis; Aplasia/Hypoplasia of the skin; Basal cell carcinoma; Blepharophimosis; Broad thumb; Coloboma; Craniosynostosis; Cutaneous finger syndactyly; Facial asymmetry; Finger syndactyly; Foot polydactyly; Generalized hirsutism; Global developmental delay; Hypertelorism; Hypopigmented skin patches; Intellectual disability; Microphthalmia; Preaxial hand polydactyly; Somatic mosaicism; Toe syndactyly; Ventriculomegaly
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
TBX312q24.21100%gene with protein product601621UMSAbnormality of temperature regulation; Abnormality of the fingernails; Abnormality of the uterus; Abnormality of the wrist; Absent axillary hair; Absent radius; Anal atresia; Anal stenosis; Anterior pituitary hypoplasia; Aplasia of the ulna; Aplasia/Hypoplasia of the ulna; Autosomal dominant inheritance; Axillary apocrine gland hypoplasia; Breast hypoplasia; Cryptorchidism; Decreased fertility; Deformed radius; Delayed puberty; Ectopic posterior pituitary; Hypodontia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic nipples; Hypoplastic scapulae; Imperforate hymen; Inguinal hernia; Inverted nipples; Micropenis; Obesity; Postaxial hand polydactyly; Pyloric stenosis; Shawl scrotum; Short 4th toe; Short 5th toe; Short clavicles; Short humerus; Short stature; Sparse axillary hair; Sparse lateral eyebrow; Subglottic stenosis; Ventricular septal defectObesity


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