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SRD5A2

Synonyms
-
External resources
Summary
This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH).

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
20
Likely pathogenic
17
VUS
1,656
Likely benign
664
Benign
1

Patient phenotypes

Proportions of phenotypes among 36 patients carring pathogenic or likely pathogenic variants on SRD5A2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the musculoskeletal system
30.6%
Abnormality of head or neck
27.8%
Abnormality of the ear
25%
Abnormality of the cardiovascular system
11.1%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
11.1%
Abnormality of prenatal development or birth
8.3%
Abnormality of the digestive system
8.3%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the integument
5.6%
Abnormality of limbs
2.8%
Abnormality of the immune system
2.8%
Neoplasm
2.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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