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Skeletal dysplasia v2.109 | SMAD3 |
Eleanor Williams commented on gene: SMAD3: 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. |
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Skeletal dysplasia v1.153 | SMAD3 | Eleanor Williams Added phenotypes Loeys-Dietz syndrome 3 613795 for gene: SMAD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SMAD3 | Tracy Lester reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Loeys-Dietz syndrome 3 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SMAD3 | Eleanor Williams reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SMAD3 |
Eleanor Williams Source NHS GMS was added to SMAD3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | SMAD3 | Sarah Leigh marked SMAD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia | SMAD3 | Sarah Leigh commented on SMAD3 |