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PDE9A

Synonyms
HSPDE9A2
External resources
Summary
The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene.

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
12
Likely pathogenic
17
VUS
7,229
Likely benign
1,336
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on PDE9A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
58.6%
Abnormality of the musculoskeletal system
51.7%
Abnormality of head or neck
44.8%
Abnormality of the eye
41.4%
Growth abnormality
24.1%
Abnormality of limbs
17.2%
Abnormality of the ear
10.3%
Abnormality of the integument
10.3%
Abnormality of prenatal development or birth
6.9%
Abnormality of the genitourinary system
6.9%
Abnormality of the immune system
6.9%
Abnormality of the cardiovascular system
3.4%
Abnormality of the digestive system
3.4%
Abnormality of the respiratory system
3.4%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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