Activity
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10 actions
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| DDG2P v6.271 | NHP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NHP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NHP2 | Achchuthan Shanmugasundram edited their review of gene: NHP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NHP2-related dyskeratosis congenita are moderate, biallelic_autosomal and loss of function (PMIDs: 18523010, 30472699, 31985013, 37440454). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01207.; Changed publications to: 31985013, 18523010, 37440454, 30472699; Changed phenotypes to: NHP2-related dyskeratosis congenita, NHP2-related dyskeratosis congenita, OMIM:613987, MONDO:0009136, OMIM:613987.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.27 | NHP2 | Achchuthan Shanmugasundram Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 to NHP2-related dyskeratosis congenita, OMIM:613987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.27 | NHP2 | Achchuthan Shanmugasundram Publications for gene: NHP2 were set to 18523010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.26 | NHP2 | Achchuthan Shanmugasundram edited their review of gene: NHP2: Changed phenotypes to: NHP2-related dyskeratosis congenita, OMIM:613987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | NHP2 | Achchuthan Shanmugasundram edited their review of gene: NHP2: Added comment: The DDG2P confidence category for the disease NHP2-related dyskeratosis congenita, OMIM:613987 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure (PMID: 37440454;30472699;18523010;31985013).; Changed publications to: 37440454, 31985013, 30472699, 18523010; Changed phenotypes to: NHP2-related dyskeratosis congenita, OMIM:613987, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NHP2 | Achchuthan Shanmugasundram reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 18523010; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, OMIM:613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NHP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NHP2. Mode of pathogenicity for gene NHP2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | NHP2 | Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NHP2 |
Rebecca Foulger gene: NHP2 was added gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 18523010 Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987 Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments |
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