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AMHR2

Synonyms
AMHR, MISR2, MISRII, MRII
External resources
Summary
This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
10
Likely pathogenic
0
VUS
1,464
Likely benign
5,334
Benign
0

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on AMHR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
40%
Abnormality of the nervous system
40%
Abnormality of the musculoskeletal system
30%
Abnormality of head or neck
20%
Growth abnormality
20%
Abnormality of blood and blood-forming tissues
10%
Abnormality of prenatal development or birth
10%
Abnormality of the cardiovascular system
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
10%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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