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
Central hypothyroidism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DMXL215q21.299.98%gene with protein product612186Ataxia; Autosomal recessive inheritance; Central hypothyroidism; Dysarthria; Dystonia; Intellectual disability; Intellectual disability, moderate; Motor delay; Postnatal growth retardation; Progressive hearing impairment; Short stature
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
KIAA055616p12.1100%gene with protein productFormer name = KATNIP616650KATNIPAnteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Central hypothyroidism; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Episodic tachypnea; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Global developmental delay; Growth hormone deficiency; Hypertelorism; Inferior vermis hypoplasia; Intellectual disability; Long face; Micropenis; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Panhypopituitarism; Ptosis; Recurrent upper respiratory tract infections; Short stature
LHX39q34.399.97%gene with protein product600577Abdominal distention; Abnormality of the hypothalamus-pituitary axis; Anterior pituitary hypoplasia; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Fatigue; Feeding difficulties; Global developmental delay; Gonadotropin deficiency; Growth hormone deficiency; Hypothalamic luteinizing hormone-releasing hormone deficiency; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Oral cleft; Pituitary dwarfism; Pituitary hypothyroidism; Sensorineural hearing impairment; Septo-optic dysplasia; Short neck; Short stature; Sleep disturbance; Thoracolumbar kyphoscoliosis; Umbilical hernia
LHX41q25.2100%gene with protein product602146Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Ectopic posterior pituitary; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Marked delay in bone age; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary dwarfism; Pituitary hypothyroidism; Septo-optic dysplasia; Severe postnatal growth retardation; Short stature; Sleep disturbance; Umbilical hernia
NIN14q22.197.5%gene with protein product608684Autosomal recessive inheritance; Central hypothyroidism; Delayed skeletal maturation; Hip dysplasia; Hypoplasia of the uterus; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Lumbar scoliosis; Madelung deformity; Microcephaly; Microtia; Primary amenorrhea; Prominent nose; Seizures; Severe global developmental delay; Severe short stature
POU1F13p11.299.93%gene with protein product173110PIT1Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Anteverted nares; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Malar flattening; Midface retrusion; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary hypothyroidism; Prolonged neonatal jaundice; Prominent forehead; Septo-optic dysplasia; Severe postnatal growth retardation; Short nose; Short stature; Sleep disturbance; Umbilical hernia
PROP15q35.399.9%gene with protein product601538Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypoglycemic seizures; Hypogonadism; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Neonatal hypoglycemia; Oral cleft; Osteopenia; Panhypopituitarism; Pituitary hypothyroidism; Prolactin deficiency; Septo-optic dysplasia; Short stature; Sleep disturbance; Umbilical herniaDisorders of Sex Development


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