Activity
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6 actions
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| DDG2P v6.335 | SEC23A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SEC23A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SEC23A | Achchuthan Shanmugasundram edited their review of gene: SEC23A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SEC23A-related craniolenticulosutural dysplasia are limited, biallelic_autosomal and undetermined (PMID:16980979). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01060.; Changed phenotypes to: SEC23A-related craniolenticulosutural dysplasia, CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812, OMIM:607812.0, MONDO:0011911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SEC23A | Achchuthan Shanmugasundram reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: Other; Publications: 16980979; Phenotypes: CRANIOLENTICULOSUTURAL DYSPLASIA, OMIM:607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SEC23A | Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC23A was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SEC23A | Rebecca Foulger reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SEC23A |
Rebecca Foulger gene: SEC23A was added gene: SEC23A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC23A were set to 16980979 Phenotypes for gene: SEC23A were set to CRANIOLENTICULOSUTURAL DYSPLASIA 607812 Mode of pathogenicity for gene: SEC23A was set to Other - please provide details in the comments |
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