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| DDG2P v3.12 | SPECC1L | Achchuthan Shanmugasundram reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21703590, 2541274; Phenotypes: FACIAL CLEFTING, OBLIQUE, 1, OMIM:600251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SPECC1L |
Achchuthan Shanmugasundram Source Expert Review Green was added to SPECC1L. Mode of pathogenicity for gene SPECC1L was changed from Other - please provide details in the comments to Other Publications for gene: SPECC1L were updated from 2541274; 21703590 to 21703590; 2541274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SPECC1L | Rebecca Foulger reviewed gene: SPECC1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SPECC1L |
Rebecca Foulger gene: SPECC1L was added gene: SPECC1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPECC1L were set to 2541274; 21703590 Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1 600251 Mode of pathogenicity for gene: SPECC1L was set to Other - please provide details in the comments |
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