Activity
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8 actions
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| DDG2P v6.424 | UROC1 | Achchuthan Shanmugasundram edited their review of gene: UROC1: Changed phenotypes to: UROC1-related urocanase deficiency, OMIM:276880, MONDO:0010167 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.424 | UROC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UROC1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UROC1 | Achchuthan Shanmugasundram edited their review of gene: UROC1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UROC1-related urocanase deficiency are disputed, biallelic_autosomal and undetermined (PMIDs: 19304569, 27391121, 30619714, 32439973). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01370.; Changed rating: RED; Changed publications to: 27391121, 19304569, 32439973, 30619714; Changed phenotypes to: MONDO:0010167, UROCANASE DEFICIENCY, OMIM:276880, UROC1-related urocanase deficiency, OMIM:276880.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | UROC1 |
Achchuthan Shanmugasundram Source Expert Review Red was added to UROC1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| DDG2P v3.12 | UROC1 | Achchuthan Shanmugasundram reviewed gene: UROC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19304569; Phenotypes: UROCANASE DEFICIENCY, OMIM:276880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UROC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene UROC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | UROC1 | Rebecca Foulger reviewed gene: UROC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | UROC1 |
Rebecca Foulger gene: UROC1 was added gene: UROC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569 Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY 276880 Mode of pathogenicity for gene: UROC1 was set to Other - please provide details in the comments |
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