Activity
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6 actions
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| DDG2P v6.55 | ARL3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ARL3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ARL3 | Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ARL3-related Joubert syndrome are strong, biallelic_autosomal and undetermined (PMID:30269812). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02622.; Changed phenotypes to: ARL3-related Joubert syndrome, MONDO:0032570, JOUBERT SYNDROME, OMIM:614615, OMIM:618161.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ARL3 | Achchuthan Shanmugasundram reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30269812; Phenotypes: JOUBERT SYNDROME, OMIM:614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARL3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3. Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | ARL3 | Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | ARL3 |
Rebecca Foulger gene: ARL3 was added gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812 Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615 Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments |
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