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SMAD6

Synonyms
AOVD2, HsT17432, MADH6, MADH7
External resources
Summary
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants 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
2
VUS
961
Likely benign
4,825
Benign
853

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on SMAD6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
35.7%
Abnormality of the genitourinary system
35.7%
Abnormality of the nervous system
35.7%
Abnormality of the cardiovascular system
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the eye
21.4%
Abnormality of prenatal development or birth
14.3%
Growth abnormality
14.3%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the integument
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
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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