Activity
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6 actions
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| DDG2P v6.243 | MAPRE2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: MAPRE2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | MAPRE2 | Achchuthan Shanmugasundram edited their review of gene: MAPRE2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for MAPRE2-related circumferential skin creases, Kunze type are definitive, biallelic_autosomal and undetermined (PMID:26637975). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01655.; Changed phenotypes to: MONDO:0014755, MAPRE2-related circumferential skin creases, Kunze type, Circumferential Skin Creases Kunze Type, OMIM:156610, OMIM:616734.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MAPRE2 | Achchuthan Shanmugasundram reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637975; Phenotypes: Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAPRE2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene MAPRE2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAPRE2 | Rebecca Foulger reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAPRE2 |
Rebecca Foulger gene: MAPRE2 was added gene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 26637975 Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type Mode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments |
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