XomeDxSlice Tool

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



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Central adrenal insufficiency

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
CTNNB13p22.1100%gene with protein product116806CTNNBAbdominal pain; Abnormal hypothalamus morphology; Abnormal visual field test; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the musculature; Autosomal dominant inheritance; Autosomal recessive inheritance; Bitemporal hemianopia; Breast carcinoma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Desmoid tumors; Dysgerminoma; Elevated alpha-fetoprotein; Enlarged pituitary gland; Epigastric pain; Excessive daytime somnolence; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hepatic fibrosis; Hepatic necrosis; Hepatocellular carcinoma; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Incomplete penetrance; Infantile onset; Intellectual disability; Intestinal polyposis; Intracranial cystic lesion; Long philtrum; Malabsorption; Medulloblastoma; Microcephaly; Micronodular cirrhosis; Myalgia; Nausea and vomiting; Neoplasm of the anterior pituitary; Neoplasm of the stomach; Neurological speech impairment; Obesity; Ovarian papillary adenocarcinoma; Papilledema; Pilomatrixoma; Pituitary hypothyroidism; Portal vein thrombosis; Progressive visual field defects; Prolactin excess; Renal cell carcinoma; Slow decrease in visual acuity; Somatic mutation; Spastic diplegia; Strabismus; Subacute progressive viral hepatitis; Subcutaneous nodule; Thin upper lip vermilion; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Vomiting
GLI37p14.1100%gene with protein product165240GCPS, PHS1-5 toe syndactyly; 3-4 finger cutaneous syndactyly; 3-4 finger syndactyly; Abnormal basal ganglia MRI signal intensity; Abnormal lung lobation; Abnormal prolactin level; Abnormality of earlobe; Accelerated skeletal maturation; Accessory oral frenulum; Adrenocorticotropic hormone deficiency; Anal atresia; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid epiglottis; Bifid uvula; Bilateral postaxial polydactyly; Brachydactyly; Broad hallux phalanx; Broad thumb; Central adrenal insufficiency; Cryptorchidism; Dandy-Walker malformation; Decreased circulating cortisol level; Decreased testicular size; Depressed nasal ridge; Distal shortening of limbs; Distal urethral duplication; Downslanted palpebral fissures; Dysplastic distal thumb phalanges with a central hole; Ectopic kidney; Esophageal atresia; Finger syndactyly; Frontal bossing; Gonadotropin deficiency; Growth hormone deficiency; Hemivertebrae; High forehead; Hip dislocation; Holoprosencephaly; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the epiglottis; Hypothalamic hamartoma; Intellectual disability, severe; Intrauterine growth retardation; Laryngeal cleft; Low-set, posteriorly rotated ears; Macrocephaly; Mesoaxial foot polydactyly; Mesoaxial hand polydactyly; Micropenis; Microphthalmia; Microtia; Nail dysplasia; Natal tooth; Neonatal death; Panhypopituitarism; Pituitary hypothyroidism; Polydactyly affecting the 3rd finger; Polydactyly affecting the 4th finger; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial polydactyly; Precocious puberty; Preductal coarctation of the aorta; Prominent occiput; Ptosis; Radial bowing; Radial head subluxation; Recurrent upper and lower respiratory tract infections; Renal cyst; Renal dysplasia; Renal hypoplasia; Rib fusion; Scaphocephaly; Secondary growth hormone deficiency; Seizures; Short 4th metacarpal; Short nose; Short stature; Skeletal dysplasia; Sloping forehead; Supernumerary metacarpal bones; Telecanthus; Thyroid dysgenesis; Toe syndactyly; Tracheoesophageal fistula; Trigonocephaly; Triphalangeal thumb; Variable expressivity; Ventricular septal defect; Wide nasal bridgeVACTERL Association
NFKB210q24.3299.99%gene with protein product164012Abnormal size of pituitary gland; Abnormality of the periungual region; Adrenocorticotropin deficient adrenal insufficiency; Anal atresia; Asthma; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Central adrenal insufficiency; Chronic otitis media; Decreased antibody level in blood; Decreased circulating ACTH level; Decreased circulating cortisol level; Elevated hepatic transaminases; Fatigue; Hemolytic anemia; Hypoglycemic coma; Hyponatremia; Hypotension; Immunodeficiency; Lymphadenopathy; Lymphopenia; Nail dystrophy; Pneumonia; Purpura; Recurrent bronchitis; Recurrent hypoglycemia; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Severe B lymphocytopenia; Severe viral infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency
PCSK15q1599.95%gene with protein product162150NEC1Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Decreased circulating cortisol level; Diarrhea; Hypogonadotrophic hypogonadism; Hypopigmentation of the skin; Increased adipose tissue; Malabsorption; Obesity; Phenotypic variability; Polyphagia; Primary amenorrhea; Reactive hypoglycemia; Red hair; Sporadic; Villous atrophyObesity
POMC2p23.3100%gene with protein product176830Adrenal insufficiency; Adrenocorticotropic hormone deficiency; Autosomal recessive inheritance; Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Hypoglycemic seizures; Hypopigmentation of the skin; Increased adipose tissue; Obesity; Polyphagia; Red hairObesity
RBM287q32.199.92%gene with protein product612074Alopecia; Autosomal recessive inheritance; Carious teeth; Central adrenal insufficiency; Delayed puberty; Flexion contracture; Gynecomastia; Hyperpigmentation of the skin; Hypodontia; Hypogonadism; Intellectual disability; Kyphoscoliosis; Melanocytic nevus; Microcephaly; Motor deterioration; Reduced subcutaneous adipose tissue; Skeletal muscle atrophy; Ulnar deviation of the hand; Upper motor neuron dysfunction

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.


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-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-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-SRTDShort-Rib Thoracic Dysplasia
CS-WSWaardenburg Syndrome