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MEOX2

Synonyms
GAX, MOX2
External resources
Summary
This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
40
VUS
2,047
Likely benign
51
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on MEOX2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
39.1%
Abnormality of the nervous system
39.1%
Abnormality of limbs
21.7%
Abnormality of the cardiovascular system
17.4%
Abnormality of head or neck
13%
Abnormality of the digestive system
13%
Abnormality of the ear
13%
Abnormality of the immune system
13%
Abnormality of the eye
8.7%
Abnormality of the integument
8.7%
Constitutional symptom
8.7%
Growth abnormality
8.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the respiratory system
4.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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