Activity
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11 actions
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| DDG2P v6.62 | ATOH7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATOH7 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATOH7 | Achchuthan Shanmugasundram edited their review of gene: ATOH7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATOH7-related persistent hyperplastic primary vitreous are strong, biallelic_autosomal and loss of function (PMIDs: 21441919, 22068589, 22645276, 26933893, 28192794). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00770.; Changed publications to: 21441919, 26933893, 28192794, 22068589, 22645276; Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900, ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900.0, MONDO:0009097 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.6 | ATOH7 | Achchuthan Shanmugasundram Phenotypes for gene: ATOH7 were changed from RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 to ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.6 | ATOH7 | Achchuthan Shanmugasundram Publications for gene: ATOH7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.5 | ATOH7 | Achchuthan Shanmugasundram edited their review of gene: ATOH7: Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | ATOH7 | Achchuthan Shanmugasundram edited their review of gene: ATOH7: Added comment: The DDG2P confidence category for the disease ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;cis-regulatory or promotor mutation (PMID: 28192794;22068589;22645276;21441919;26933893).; Changed rating: GREEN; Changed publications to: 28192794, 22645276, 22068589, 26933893, 21441919; Changed phenotypes to: ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900, RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | ATOH7 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ATOH7. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | ATOH7 | Achchuthan Shanmugasundram reviewed gene: ATOH7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC, OMIM:221900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATOH7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATOH7 | Rebecca Foulger reviewed gene: ATOH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATOH7 |
Rebecca Foulger gene: ATOH7 was added gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900 Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments |
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