Activity
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11 actions
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| DDG2P v6.272 | NOP10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NOP10 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NOP10 | Achchuthan Shanmugasundram edited their review of gene: NOP10: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NOP10-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMID:17507419). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00165.; Changed phenotypes to: MONDO:0009136, NOP10-related dyskeratosis congenita, OMIM:224230, OMIM:224230.0, NOP10-related dyskeratosis congenita | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.28 | NOP10 | Achchuthan Shanmugasundram Phenotypes for gene: NOP10 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230; NOP10-RELATED DYSKERATOSIS CONGENITA 318811 to NOP10-related dyskeratosis congenita, OMIM:224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.27 | NOP10 | Achchuthan Shanmugasundram edited their review of gene: NOP10: Changed phenotypes to: NOP10-related dyskeratosis congenita, OMIM:224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NOP10 | Achchuthan Shanmugasundram edited their review of gene: NOP10: Added comment: The DDG2P confidence category for the disease NOP10-related dyskeratosis congenita, OMIM:224230 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 17507419).; Changed rating: GREEN; Changed phenotypes to: NOP10-related dyskeratosis congenita, OMIM:224230, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | NOP10 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NOP10. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | NOP10 | Achchuthan Shanmugasundram reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: Other; Publications: 17507419; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, OMIM:224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NOP10 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NOP10 | Rebecca Foulger reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NOP10 | Rebecca Foulger Added phenotypes NOP10-RELATED DYSKERATOSIS CONGENITA 318811 for gene: NOP10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NOP10 |
Rebecca Foulger gene: NOP10 was added gene: NOP10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOP10 were set to 17507419 Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230 Mode of pathogenicity for gene: NOP10 was set to Other - please provide details in the comments |
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