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Hereditary haemorrhagic telangiectasia v1.51 SMAD4 Matthew Edwards reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914, 15031030, 22810475; Phenotypes: OMIM: 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary haemorrhagic telangiectasia v1.34 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hereditary haemorrhagic telangiectasia v1.32 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary haemorrhagic telangiectasia SMAD4 Sarah Leigh marked SMAD4 as ready
Hereditary haemorrhagic telangiectasia SMAD4 Sarah Leigh commented on SMAD4
Hereditary haemorrhagic telangiectasia SMAD4 Claire Shovlin reviewed SMAD4