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HSD3B1

Synonyms
3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
External resources
Summary
The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids.

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
4
Likely pathogenic
0
VUS
871
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on HSD3B1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of blood and blood-forming tissues
25%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the cardiovascular system
25%
Abnormality of the ear
25%
Abnormality of the immune system
25%
Abnormality of the nervous system
25%
Growth abnormality
25%
Neoplasm
25%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
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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