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SMAD9

Synonyms
MADH6, MADH9, PPH2, SMAD8, SMAD8/9, SMAD8A, SMAD8B
External resources
Summary
The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding 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
7
Likely pathogenic
0
VUS
275
Likely benign
473
Benign
282

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on SMAD9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
42.9%
Abnormality of the nervous system
42.9%
Abnormality of the cardiovascular system
28.6%
Abnormality of the endocrine system
28.6%
Abnormality of the eye
28.6%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the integument
14.3%
Abnormality of the musculoskeletal system
14.3%
Growth abnormality
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 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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