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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

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
16
Likely pathogenic
3
VUS
1,309
Likely benign
968
Benign
2,915

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on SMAD6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of head or neck
36.8%
Abnormality of the genitourinary system
31.6%
Abnormality of the musculoskeletal system
31.6%
Abnormality of the cardiovascular system
26.3%
Abnormality of the eye
15.8%
Abnormality of prenatal development or birth
10.5%
Abnormality of the ear
10.5%
Growth abnormality
10.5%
Abnormality of the endocrine system
5.3%
Abnormality of the integument
5.3%
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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