Skeletal dysplasia
Gene: SMAD3
Overgrowth (tall stature) syndromes with skeletal involvement. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 3 613795
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, 12:24 a.m. | Last Modified: 28 Jul 2021, 12:24 a.m.
Panel Version: 2.109
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMAD3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 6:56 a.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Loeys-Dietz syndrome 3 613795
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Loeys-Dietz syndrome 3 613795 for gene: SMAD3
Source NHS GMS was added to SMAD3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SMAD3 were set to Loeys-Dietz syndrome 3 613795
Mode of inheritance for SMAD3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SMAD3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
SMAD3 was added to Unexplained skeletal dysplasiapanel. Sources:
SMAD3 was created by sleigh