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

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Phenotypes
Paronychia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADAM172p25.199.99%gene with protein product603639TACEAutosomal recessive inheritance; Blepharitis; Eosinophilia; Erythema; Erythroderma; Hematochezia; Paronychia; Pustule; Thick nail; Villous atrophyInflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
LAMA318q11.299.98%gene with protein product600805LAMNAAbnormal blistering of the skin; Abnormality of skin pigmentation; Abnormality of the eye; Amelogenesis imperfecta; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Congenital localized absence of skin; Congenital onset; Death in infancy; Dehydration; Dyspnea; Esophageal stricture; Failure to thrive; Feeding difficulties; Fragile nails; Heterogeneous; Hoarse cry; Hoarse voice; Hypodontia; Hypoplasia of dental enamel; Infantile onset; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Recurrent loss of toenails and fingernails; Scarring alopecia of scalp; Skin erosion; Skin ulcer; Sparse body hair; Weak cryPalmoplantar keratoderma plus congenital ichthyosis
LAMB31q32.2100%gene with protein product150310LAMNB1Abnormal blistering of the skin; Abnormality of skin pigmentation; Amelogenesis imperfecta; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Congenital localized absence of skin; Congenital onset; Death in infancy; Dehydration; Dyspnea; Esophageal stricture; Failure to thrive; Feeding difficulties; Fragile nails; Generalized microdontia; Heterogeneous; Hoarse voice; Hypodontia; Hypoplasia of dental enamel; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Scarring alopecia of scalp; Skin erosion; Sparse body hairPalmoplantar keratoderma plus congenital ichthyosis
LAMC21q25.3100%gene with protein product150292EBR2, LAMB2T, LAMNB2, EBR2AAbnormal blistering of the skin; Abnormality of skin pigmentation; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Congenital localized absence of skin; Congenital onset; Death in infancy; Dehydration; Dyspnea; Esophageal stricture; Failure to thrive; Feeding difficulties; Fragile nails; Heterogeneous; Hoarse voice; Hypodontia; Hypoplasia of dental enamel; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Scarring alopecia of scalp; Skin erosion; Sparse body hairPalmoplantar keratoderma plus congenital ichthyosis
RETREG15p15.1100%gene with protein productformer name = FAM134B613114FAM134BAbnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperhidrosis; Hyperlordosis; Hyporeflexia; Infantile onset; Juvenile onset; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Painless fractures due to injury; Paronychia; Peripheral axonal neuropathy; Peripheral neuropathy; Progressive; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Spasticity; Tapered finger; Urinary incontinence; Wormian bones
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
SLC39A48q24.3100%gene with protein product607059AEZAbnormal blistering of the skin; Abnormal eyebrow morphology; Alopecia; Alopecia of scalp; Ataxia; Autosomal recessive inheritance; Blepharitis; Cerebral cortical atrophy; Cheilitis; Chronic diarrhea; Conjunctivitis; Decreased taste sensation; Decreased testicular size; Decreased testosterone in males; Diarrhea; Dry skin; Emotional lability; Erythema; Failure to thrive; Furrowed tongue; Glossitis; Hepatomegaly; Hypogonadism; Impaired T cell function; Infantile onset; Irritability; Lethargy; Low alkaline phosphatase; Malabsorption; Paronychia; Photophobia; Poor appetite; Pustule; Recurrent candida infections; Ridged fingernail; Ridged nail; Short stature; Skin ulcer; Splenomegaly; TremorPalmoplantar keratoderma plus congenital ichthyosis
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
WNK112p13.33100%gene with protein product605232PRKWNK1, HSN2Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperhidrosis; Hyperkalemia; Hyperlordosis; Hypertension; Hyporeflexia; Infantile onset; Metabolic acidosis; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Paronychia; Peripheral neuropathy; Pseudohypoaldosteronism; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Tapered finger; Wormian bones


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