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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
53
Likely pathogenic
15
VUS
1,417
Likely benign
2,016
Benign
7

Patient phenotypes

Proportions of phenotypes among 68 patients carring pathogenic or likely pathogenic variants on DUOXA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
25%
Abnormality of the eye
23.5%
Abnormality of the ear
19.1%
Abnormality of the musculoskeletal system
17.6%
Abnormality of head or neck
14.7%
Abnormality of the cardiovascular system
13.2%
Growth abnormality
10.3%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of limbs
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the digestive system
4.4%
Abnormality of the genitourinary system
4.4%
Abnormality of the immune system
4.4%
Abnormality of the respiratory system
4.4%
Abnormality of prenatal development or birth
2.9%
Abnormality of the integument
2.9%
Abnormal cellular phenotype
1.5%
Constitutional symptom
1.5%
Neoplasm
1.5%
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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