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Arthrogryposis

Gene: SMAD3

Green List (high evidence)

SMAD3 (SMAD family member 3)
EnsemblGeneIds (GRCh38): ENSG00000166949
EnsemblGeneIds (GRCh37): ENSG00000166949
OMIM: 603109, Gene2Phenotype
SMAD3 is in 16 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Note one case with 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, 12:23 a.m. | Last Modified: 28 Jul 2021, 12:23 a.m.
Panel Version: 3.113

Alice Gardham (Genomics England)

Green List (high evidence)

recognised on G2P
Created: 5 Jan 2017, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome 3 613795

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Loeys-Dietz syndrome 3 613795
OMIM
603109
Clinvar variants
Variants in SMAD3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

SMAD3 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

SMAD3 was created by agardham