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DMBX1

Synonyms
MBX, OTX3, PAXB
External resources
Summary
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene.

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
1
Likely pathogenic
6
VUS
1,560
Likely benign
5,184
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on DMBX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
71.4%
Abnormality of the cardiovascular system
42.9%
Abnormality of head or neck
28.6%
Abnormality of limbs
28.6%
Abnormality of the eye
28.6%
Abnormality of the integument
28.6%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the immune system
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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