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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

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
11
Likely pathogenic
0
VUS
426
Likely benign
790
Benign
251

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on SMAD9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of head or neck
27.3%
Abnormality of the cardiovascular system
27.3%
Abnormality of the endocrine system
18.2%
Abnormality of the eye
18.2%
Abnormality of the ear
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the integument
9.1%
Abnormality of the musculoskeletal system
9.1%
Growth abnormality
9.1%
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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