Activity
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6 actions
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| APC associated Polyposis v1.2 | APC | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #135290, #175100 & #619182) and these OMIM records were last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| APC associated Polyposis v1.2 | APC | Achchuthan Shanmugasundram Phenotypes for gene: APC were changed from to Desmoid disease, hereditary, OMIM:135290; Adenomatous polyposis coli, OMIM:175100; Brain tumor-polyposis syndrome 2, OMIM:175100; Gardner syndrome, OMIM:175100; Gastric adenocarcinoma and proximal polyposis of the stomach, OMIM:619182; desmoid tumor, MONDO:0007608; gastric adenocarcinoma and proximal polyposis of the stomach, MONDO:0017790; familial adenomatous polyposis 1, MONDO:0021056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| APC associated Polyposis v0.5 | APC | Eleanor Williams changed review comment from: APC has been added to the panel for R414 APC associated Polyposis with a green rating as agreed with the NHS Genomic Medicine Service.; to: APC has been added to the panel for the clinical indication 'R414 APC associated Polyposis' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| APC associated Polyposis v0.5 | APC | Eleanor Williams reviewed gene: APC: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| APC associated Polyposis v0.4 | APC |
Eleanor Williams gene: APC was added gene: APC was added to APC associated Polyposis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| APC associated Polyposis v0.0 |
Eleanor Williams Added Panel APC associated Polyposis Set list of related panels to R414 |
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