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Inherited MMR deficiency (Lynch syndrome) v1.9 | PMS2 | Arina Puzriakova Phenotypes for gene: PMS2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337; Colorectal cancer, hereditary nonpolyposis, type 4, MONDO:0013699; Lynch syndrome 1, MONDO:0007356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited MMR deficiency (Lynch syndrome) v0.11 | PMS2 | Ivone Leong commented on gene: PMS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited MMR deficiency (Lynch syndrome) v0.9 | PMS2 | Ivone Leong Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited MMR deficiency (Lynch syndrome) v0.3 | PMS2 | Rachel Robinson reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited MMR deficiency (Lynch syndrome) v0.3 | PMS2 | Lara Hawkes reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited MMR deficiency (Lynch syndrome) v0.2 | PMS2 |
Ivone Leong gene: PMS2 was added gene: PMS2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: PMS2 was set to |