XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Abnormality of the helix

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA122q35100%gene with protein product607800ICR2BAbnormality of abdomen morphology; Abnormality of the helix; Abnormality of the nail; Abnormality of the nervous system; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Depressed nasal ridge; Dry skin; Eclabion; Ectropion; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing abnormality; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Premature birth; Proptosis; Pruritus; Recurrent respiratory infections; Rigidity; Short finger; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ALOX12B17p13.1100%gene with protein product603741Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; External genital hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hypergranulosis; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Intellectual disability; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Paralysis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
ALOXE317p13.199.94%gene with protein product607206Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; External genital hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hypergranulosis; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Intellectual disability; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Paralysis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
CYP4F2219p13.12100%gene with protein product611495Abnormality of the helix; Abnormality of the nail; Aplasia/Hypoplasia of the eyebrow; Dry skin; Ectropion; Erythroderma; Everted lower lip vermilion; Hyperkeratosis; Hypotrichosis; Ichthyosis; Lack of skin elasticity; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
LIPN10q23.3199.95%gene with protein product613924LIPL4Abnormality of the helix; Abnormality of the nail; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Hypergranulosis; Hyperkeratosis; Hypotrichosis; Ichthyosis; Lack of skin elasticity; Orthokeratosis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
NF117q11.2100%gene with protein product613113Abdominal wall muscle weakness; Abnormality of the cardiovascular system; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the thorax; Astrocytoma; Autosomal dominant inheritance; Axillary freckling; Cafe-au-lait spot; Cryptorchidism; Cubitus valgus; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Freckling; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypertrophic cardiomyopathy; Hypoplasia of dental enamel; Inguinal freckling; Intellectual disability; Intellectual disability, mild; Juvenile myelomonocytic leukemia; Lisch nodules; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower limb muscle weakness; Macrocephaly; Malar flattening; Microcephaly; Midface retrusion; Multiple cafe-au-lait spots; Muscle weakness; Neurofibromas; Neurofibrosarcoma; Optic nerve glioma; Overgrowth; Paraparesis; Parathyroid adenoma; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Prolonged bleeding time; Prominent nasolabial fold; Ptosis; Pulmonic stenosis; Relative macrocephaly; Rhabdomyosarcoma; Scoliosis; Secundum atrial septal defect; Short neck; Short stature; Somatic mutation; Specific learning disability; Spina bifida; Spinal cord tumor; Superior pectus carinatum; Symmetric spinal nerve root neurofibromas; Webbed neckCongenital Kidney and Urinary Tract (CKUT) Anomalies; Palmoplantar keratoderma plus congenital ichthyosis
NIPAL45q33.3100%gene with protein product609383Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital nonbullous ichthyosiform erythroderma; Corneal erosion; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Palmoplantar keratoderma; Parakeratosis; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX512p13.31100%gene with protein product600414PXR1Abnormal chorioretinal morphology; Abnormal facial shape; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the mitochondrion; Abnormality of the palate; Adrenal insufficiency; Aminoaciduria; Anteverted nares; Apnea; Areflexia; Asthma; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad-based gait; Brushfield spots; Camptodactyly; Cataract; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Coxa vara; Cryptorchidism; Cubitus valgus; Death in childhood; Death in infancy; Decreased body weight; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; Esotropia; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Frontal bossing; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplasia of the thymus; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Joint contracture of the hand; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Metaphyseal cupping; Metaphyseal irregularity; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Peripheral neuropathy; Pes cavus; Pigmentary retinopathy; Polar cataract; Polycystic kidney dysplasia; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short femoral neck; Short stature; Single transverse palmar crease; Sinus tachycardia; Skeletal dysplasia; Spasticity; Stippled chondral calcification; Strabismus; Talipes equinovarus; Thoracic scoliosis; Turricephaly; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Vertical nystagmus; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
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
SULT2B119q13.3100%gene with protein product604125Abnormality of the helix; Abnormality of the nail; Aplasia/Hypoplasia of the eyebrow; Dry skin; Ectropion; Erythroderma; Everted lower lip vermilion; Hyperkeratosis; Hypotrichosis; Ichthyosis; Lack of skin elasticity; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis
TGM114q12100%gene with protein product190195ICR2Abnormality of the helix; Abnormality of the nail; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Congenital ichthyosiform erythroderma; Corneal erosion; Desquamation of skin soon after birth; Dry skin; Ectropion; Epidermal acanthosis; Erythroderma; Everted lower lip vermilion; Failure to thrive; Hearing impairment; Hyperkeratosis; Hypohidrosis; Hypotrichosis; Ichthyosis; Keratitis; Lack of skin elasticity; Limitation of joint mobility; Palmoplantar keratoderma; Pruritus; Sparse hairPalmoplantar keratoderma plus congenital ichthyosis


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