Activity
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6 actions
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| DDG2P v6.210 | INPP5K | Achchuthan Shanmugasundram Mode of pathogenicity for gene: INPP5K was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | INPP5K | Achchuthan Shanmugasundram edited their review of gene: INPP5K: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability are strong, biallelic_autosomal and undetermined (PMIDs: 28190456, 28190459, 28940338). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01962.; Changed publications to: 28940338, 28190456, 28190459; Changed phenotypes to: INPP5K-related muscular dystrophy, congenital, with cataracts, and intellectual disability, Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404, OMIM:617404.0, MONDO:0024607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | INPP5K | Achchuthan Shanmugasundram reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28190459, 28190456, 28940338; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | INPP5K |
Achchuthan Shanmugasundram Source Expert Review Green was added to INPP5K. Mode of pathogenicity for gene INPP5K was changed from Other - please provide details in the comments to Other Publications for gene: INPP5K were updated from 28190459; 28190456 to 28190459; 28190456; 28940338 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | INPP5K | Rebecca Foulger reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments |
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