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Ehlers Danlos syndrome with a likely monogenic cause v2.60 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.
Ehlers Danlos syndrome with a likely monogenic cause v2.45 SMAD3 Ivone Leong Phenotypes for gene: SMAD3 were changed from Loeys-Dietz syndrome 3, 613795 to Loeys-Dietz syndrome 3, OMIM:613795
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD3 Duncan Baker reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD3 Eleanor Williams reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD3 Eleanor Williams Source NHS GMS was added to SMAD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Angela Brady reviewed SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Neeti Ghali reviewed SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty edited their review of SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty edited their review of SMAD3
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty classified SMAD3 as green
Ehlers Danlos syndrome with a likely monogenic cause SMAD3 Louise Daugherty commented on SMAD3