Activity
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6 actions
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| DDG2P v6.402 | UBR7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UBR7 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UBR7 | Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UBR7-related intellectual developmental disorder are strong, biallelic_autosomal and loss of function (PMIDs: 21937992, 33340455, 36757286). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01524.; Changed publications to: 33340455, 36757286, 21937992; Changed phenotypes to: UBR7-related intellectual developmental disorder, MONDO:0030963, OMIM:619189.0, AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UBR7 | Achchuthan Shanmugasundram reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 36757286, 33340455; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UBR7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7. Publications for gene: UBR7 were updated from 21937992 to 21937992; 36757286; 33340455 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | UBR7 | Rebecca Foulger reviewed gene: UBR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | UBR7 |
Rebecca Foulger gene: UBR7 was added gene: UBR7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR7 were set to 21937992 Phenotypes for gene: UBR7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: UBR7 was set to Other - please provide details in the comments |
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