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| DDG2P v6.137 | DEAF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DEAF1 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DEAF1 | Achchuthan Shanmugasundram edited their review of gene: DEAF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related intellectual developmental disorder are definitive, monoallelic_autosomal and dominant negative (PMIDs: 21076407, 24726472). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00255. The DDG2P confidence category, allelic requirement and molecular mechanism for DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy are strong, biallelic_autosomal and loss of function (PMIDs: 26048982, 26834045). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02423.; Changed publications to: 24726472, 21076407, 26048982, 26834045; Changed phenotypes to: OMIM:615828.0, Autism, intellectual disability, basal ganglia dysfunction and epilepsy, OMIM:617171.0, DEAF1-related autism, intellectual disability, basal ganglia dysfunction and epilepsy, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, DEAF1-related intellectual developmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.40 | DEAF1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: DEAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DEAF1 | Achchuthan Shanmugasundram reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982, 24726472, 26834045, 21076407; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 24, OMIM:615828, Autism, intellectual disability, basal ganglia dysfunction and epilepsy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DEAF1 |
Achchuthan Shanmugasundram Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DEAF1 were updated from 26834045; 26048982 to 24726472; 26048982; 26834045; 21076407 |
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| DDG2P v0.67 | DEAF1 | Rebecca Foulger Classified gene: DEAF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.67 | DEAF1 | Rebecca Foulger Gene: deaf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | DEAF1 | Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | DEAF1 | Rebecca Foulger Tag watchlist tag was added to gene: DEAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | DEAF1 | Rebecca Foulger commented on gene: DEAF1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | DEAF1 | Rebecca Foulger reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | DEAF1 |
Rebecca Foulger Added phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy for gene: DEAF1 Publications for gene DEAF1 were changed from 24726472; 21076407 to 26834045; 26048982 |
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| DDG2P v0.1 | DEAF1 |
Rebecca Foulger gene: DEAF1 was added gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DEAF1 were set to 24726472; 21076407 Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments |
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