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MEOX1

Synonyms
KFS2, MOX1
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 molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described.

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
51
Likely pathogenic
0
VUS
1,389
Likely benign
401
Benign
0

Patient phenotypes

Proportions of phenotypes among 45 patients carrying pathogenic or likely pathogenic variants on MEOX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
26.7%
Abnormality of the eye
24.4%
Abnormality of limbs
17.8%
Abnormality of the cardiovascular system
13.3%
Abnormality of the ear
13.3%
Abnormality of the genitourinary system
11.1%
Abnormality of the endocrine system
8.9%
Growth abnormality
8.9%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of the integument
6.7%
Abnormality of prenatal development or birth
4.4%
Abnormality of the respiratory system
4.4%
Abnormal cellular phenotype
2.2%
Abnormality of the digestive system
2.2%
Abnormality of the immune system
2.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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