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DUOXA2

Synonyms
SIMNIPHOM, TDH5
External resources
Summary
This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.

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
85
Likely pathogenic
24
VUS
5,357
Likely benign
5,833
Benign
245

Patient phenotypes

Proportions of phenotypes among 109 patients carrying pathogenic or likely pathogenic variants on DUOXA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
26.6%
Abnormality of the cardiovascular system
20.2%
Abnormality of the eye
19.3%
Abnormality of the musculoskeletal system
16.5%
Abnormality of the ear
14.7%
Abnormality of head or neck
13.8%
Abnormality of the genitourinary system
9.2%
Growth abnormality
8.3%
Abnormality of blood and blood-forming tissues
6.4%
Abnormality of limbs
6.4%
Abnormality of the digestive system
6.4%
Abnormality of the endocrine system
6.4%
Abnormality of the immune system
6.4%
Neoplasm
5.5%
Abnormality of the integument
3.7%
Abnormality of the respiratory system
3.7%
Constitutional symptom
2.8%
Abnormality of prenatal development or birth
1.8%
Abnormal cellular phenotype
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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