Home > Gene Browser > DMBX1
DMBX1
- Synonyms
- MBX, OTX3, PAXB
- External resources
- NCBI127343
- OMIM607410
- EnsemblENSG00000197587
- HGNCHGNC:19026
- 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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