Activity
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6 actions
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| DDG2P v6.187 | GRIA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: GRIA4 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | GRIA4 | Achchuthan Shanmugasundram edited their review of gene: GRIA4: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities are limited, monoallelic_autosomal and undetermined (PMID:29220673). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02815.; Changed phenotypes to: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864, MONDO:0060641, GRIA4-related neurodevelopmental disorder with or without seizures and gait abnormalities, OMIM:617864.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | GRIA4 | Achchuthan Shanmugasundram reviewed gene: GRIA4: Rating: RED; Mode of pathogenicity: Other; Publications: 29220673; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, OMIM:617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRIA4 | Achchuthan Shanmugasundram Mode of pathogenicity for gene GRIA4 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.152 | GRIA4 | Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.151 | GRIA4 |
Rebecca Foulger gene: GRIA4 was added gene: GRIA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIA4 were set to 29220673 Phenotypes for gene: GRIA4 were set to NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 Mode of pathogenicity for gene: GRIA4 was set to Other - please provide details in the comments |
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