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| Inherited polyposis and early onset colorectal cancer - germline testing v1.19 | SMAD4 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Myhre syndrome (MIM# 139210) and Pancreatic cancer, somatic (MIM# 260350) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v1.19 | SMAD4 | Arina Puzriakova Phenotypes for gene: SMAD4 were changed from Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 to Polyposis, juvenile intestinal, OMIM:174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.50 | SMAD4 | Ivone Leong Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.31 | SMAD4 | Ivone Leong Mode of inheritance for gene: SMAD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.16 | SMAD4 | Ivone Leong Classified gene: SMAD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.16 | SMAD4 | Ivone Leong Gene: smad4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | SMAD4 | Rachel Robinson reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | SMAD4 | Lara Hawkes reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | SMAD4 |
Ivone Leong gene: SMAD4 was added gene: SMAD4 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: SMAD4 was set to |
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