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| DDG2P v6.28 | ADAMTS18 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADAMTS18 was changed from Other - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADAMTS18 | Achchuthan Shanmugasundram edited their review of gene: ADAMTS18: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus are definitive, biallelic_autosomal and loss of function (PMIDs: 22686506, 23818446, 24874986). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02048.; Changed phenotypes to: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458, OMIM:615458.0, MONDO:0014195, ADAMTS18-related microcornea, myopic chorioretinal atrophy, and telecanthus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADAMTS18 | Achchuthan Shanmugasundram reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: 24874986, 23818446, 22686506; Phenotypes: Microcornea, myopic chorioretinal atrophy, and telecanthus, OMIM:615458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADAMTS18 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS18. Publications for gene: ADAMTS18 were updated from 21862674 to 24874986; 21862674; 23818446; 22686506 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | ADAMTS18 | Rebecca Foulger reviewed gene: ADAMTS18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ADAMTS18 |
Rebecca Foulger gene: ADAMTS18 was added gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS18 were set to 21862674 Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454 Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments |
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