Activity
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10 actions
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| DDG2P v6.414 | WRAP53 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: WRAP53 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | WRAP53 | Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for WRAP53-related dyskeratosis congenita are strong, biallelic_autosomal and loss of function (PMIDs: 21205863, 29514627, 32303682, 34599657). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00718.; Changed publications to: 34599657, 32303682, 29514627, 21205863; Changed phenotypes to: OMIM:613988.0, WRAP53-related dyskeratosis congenita, MONDO:0013520, WRAP53-related dyskeratosis congenita, OMIM:613988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.42 | WRAP53 | Achchuthan Shanmugasundram Phenotypes for gene: WRAP53 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988 to WRAP53-related dyskeratosis congenita, OMIM:613988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.41 | WRAP53 | Achchuthan Shanmugasundram Publications for gene: WRAP53 were set to 21205863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.40 | WRAP53 | Achchuthan Shanmugasundram edited their review of gene: WRAP53: Changed phenotypes to: WRAP53-related dyskeratosis congenita, OMIM:613988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | WRAP53 | Achchuthan Shanmugasundram edited their review of gene: WRAP53: Added comment: The DDG2P confidence category for the disease WRAP53-related dyskeratosis congenita, OMIM:613988 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 29514627;34599657;32303682;21205863).; Changed publications to: 34599657, 29514627, 21205863, 32303682; Changed phenotypes to: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988, WRAP53-related dyskeratosis congenita, OMIM:613988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | WRAP53 | Achchuthan Shanmugasundram reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, OMIM:613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | WRAP53 | Achchuthan Shanmugasundram Mode of pathogenicity for gene WRAP53 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | WRAP53 | Rebecca Foulger reviewed gene: WRAP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | WRAP53 |
Rebecca Foulger gene: WRAP53 was added gene: WRAP53 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRAP53 were set to 21205863 Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988 Mode of pathogenicity for gene: WRAP53 was set to Other - please provide details in the comments |
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