Ehlers Danlos syndrome with a likely monogenic cause

Gene: SMAD3

Green List (high evidence)

I don't know

Note one case with a biallelic variant reported:
PMID: 32935439 - Baskin et al 2020 - first report of a LDS patient with biallelic SMAD3 variants (affecting splice site). Proband had classic Loeys-Dietz features, including dysmorphic facial features, significant scoliosis, and pectus excavatum, arachnodactyly, severe aortic root dilation, and diffuse arterial tortuosity. His parents are each heterozygous for the likely pathogenic variant and are more mildly affected.

Created: 28 Jul 2021, 12:25 a.m. | Last Modified: 28 Jul 2021, 12:25 a.m.

Panel Version: 2.60

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMAD3; Suggested initial gene rating: green

Created: 3 Apr 2019, 3:41 p.m.

Green List (high evidence)

Green List (high evidence)

I don't know

Refer to clinical team for further discussion on wether we should include this gene on the EDS panel. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.

Created: 28 Apr 2017, 11:50 a.m.

Comment on phenotypes: included in EDS panel as Loeys-Dietz syndrome is a Heritable Connective Tissue Disorder.

Created: 26 Apr 2017, 1:32 p.m.

Comment on list classification: Green due to enough evidence in the literature

Created: 26 Apr 2017, 11:50 a.m.

Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases

Created: 26 Apr 2017, 11:50 a.m.