Activity
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6 actions
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| DDG2P v6.278 | NUP62 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: NUP62 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | NUP62 | Achchuthan Shanmugasundram edited their review of gene: NUP62: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for NUP62-related infantile striatonigral degeneration are strong, biallelic_autosomal and undetermined (PMID:16786527). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00243.; Changed phenotypes to: NUP62-related infantile striatonigral degeneration, INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930, OMIM:271930.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | NUP62 | Achchuthan Shanmugasundram reviewed gene: NUP62: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16786527; Phenotypes: INFANTILE STRIATONIGRAL DEGENERATION, OMIM:271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NUP62 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NUP62. Mode of pathogenicity for gene NUP62 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 | NUP62 | Rebecca Foulger reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NUP62 |
Rebecca Foulger gene: NUP62 was added gene: NUP62 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 16786527 Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION 271930 Mode of pathogenicity for gene: NUP62 was set to Other - please provide details in the comments |
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