ClinGen Knowledge Base | Clinical Genome Resource

SMAD3

Name: SMAD3
HGNC ID: HGNC:6769
Cytogenetic Location: 15q22.33
Haploinsufficiency: Sufficient Evidence
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

SMAD3 - aneurysm-osteoarthritis syndrome | MONDO:0013426

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	12/01/2016	View report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	05/31/2017	View report
Clinical Actionability	View report for scoring details	01/10/2018	View report

SMAD3 - familial thoracic aortic aneurysm and aortic dissection | MONDO:0019625

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	12/22/2016	View report

SMAD3

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	05/31/2017	View report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	05/31/2017	View report

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