Activity
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7 actions
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| Inherited MMR deficiency (Lynch syndrome) v1.7 | MLH1 | Arina Puzriakova Phenotypes for gene: MLH1 were changed from Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249; Lynch syndrome 1, MONDO:0007356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v1.5 | MLH1 | Arina Puzriakova Phenotypes for gene: MLH1 were changed from to Colorectal cancer, hereditary nonpolyposis, type 2, OMIM:609310; Colorectal cancer, hereditary nonpolyposis, type 2, MONDO:0012249 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.11 | MLH1 | Ivone Leong commented on gene: MLH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.6 | MLH1 | Ivone Leong Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MLH1 | Rachel Robinson reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.3 | MLH1 | Lara Hawkes reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited MMR deficiency (Lynch syndrome) v0.2 | MLH1 |
Ivone Leong gene: MLH1 was added gene: MLH1 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: MLH1 was set to |
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