XomeDxSlice Tool

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



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Atlantoaxial instability

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
DDR21q23.3100%gene with protein product191311TYRO10, NTRKR3Abnormal calcification of the carpal bones; Abnormality of the neck; Anterior rib cupping; Atlantoaxial instability; Autosomal recessive inheritance; Bell-shaped thorax; Bowing of the legs; Broad metacarpals; Broad phalanx; C1-C2 subluxation; Calcification of falx cerebri; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow flexion contracture; Epiphyseal stippling; Flared iliac wings; Flared metaphysis; Frontal bossing; Generalized hypotonia; Global developmental delay; High palate; Hip subluxation; Hypertelorism; Hypoplasia of the odontoid process; Knee flexion contracture; Long fibula; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Muscular hypotonia; Pectus excavatum; Platyspondyly; Posterior rib cupping; Progressive calcification of costochondral cartilage; Proptosis; Recurrent pneumonia; Restrictive ventilatory defect; Scoliosis; Short long bone; Short metacarpal; Short nose; Short phalanx of finger; Short ribs; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Syringomyelia; Thoracic hypoplasia; Tracheal calcification; Triangular shaped distal phalanges of the hand
DYM18q21.1100%gene with protein product607461Abnormality of epiphysis morphology; Abnormality of the ilium; Abnormality of the metaphysis; Abnormality of the wrist; Atlantoaxial instability; Autosomal recessive inheritance; Barrel-shaped chest; Beaking of vertebral bodies; Broad foot; Broad palm; Camptodactyly; Carpal bone hypoplasia; Coarse facial features; Cone-shaped epiphyses of the phalanges of the hand; Deformed sella turcica; Delayed femoral head ossification; Disproportionate short-trunk short stature; Dolichocephaly; Enlargement of the costochondral junction; Flat acetabular roof; Flat glenoid fossa; Genu valgum; Genu varum; Global developmental delay; Hip dislocation; Hyperlordosis; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic facial bones; Hypoplastic iliac wing; Hypoplastic scapulae; Iliac crest serration; Intellectual disability; Irregular epiphyses; Joint stiffness; Kyphosis; Lumbar hyperlordosis; Mandibular prognathia; Metaphyseal irregularity; Microcephaly; Micromelia; Multicentric femoral head ossification; Multicentric ossification of proximal femoral epiphyses; Multicentric ossification of proximal humeral epiphyses; Narrow greater sacrosciatic notches; Neurological speech impairment; Pectus carinatum; Platyspondyly; Postnatal growth retardation; Prominent sternum; Rhizomelia; Scoliosis; Severe global developmental delay; Shield chest; Short metacarpal; Short metatarsal; Short neck; Short phalanx of finger; Short thorax; Skeletal dysplasia; Sloping forehead; Spinal canal stenosis; Thickened calvaria; Thoracic kyphosis; Waddling gait; Wide pubic symphysis
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia

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