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Ehlers Danlos syndrome with a likely monogenic cause v2.4 SMAD4 Arina Puzriakova Tag curated_removed tag was added to gene: SMAD4.
Ehlers Danlos syndrome with a likely monogenic cause v1.58 SMAD4 Eleanor Williams Classified gene: SMAD4 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.58 SMAD4 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove this gene from the panel as there is not enough overlap with the EDS phenotype.
Ehlers Danlos syndrome with a likely monogenic cause v1.58 SMAD4 Eleanor Williams Gene: smad4 has been removed from the panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.45 SMAD4 Eleanor Williams Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT); ~20% with connective tissue features.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD4 Duncan Baker edited their review of gene: SMAD4: Changed phenotypes: juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT), ~20% with connective tissue features.
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD4 Eleanor Williams reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 SMAD4 Eleanor Williams Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.40 SMAD4 Duncan Baker reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Angela Brady reviewed SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Neeti Ghali reviewed SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty edited their review of SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty edited their review of SMAD4
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty classified SMAD4 as green
Ehlers Danlos syndrome with a likely monogenic cause SMAD4 Louise Daugherty commented on SMAD4