| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | SOX11 | Achchuthan Shanmugasundram reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 35341651, 26543203, 24886874; Phenotypes: SOX11-related neurodevelopmental disorder, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SOX11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11. Publications for gene: SOX11 were updated from 24886874; 26543203 to 35341651; 26543203; 24886874 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.137 | SOX11 | Rebecca Foulger commented on gene: SOX11: The rating of genes on the DDG2P panel directly reflects the Gene2Phenotype Disease confidence. Therefore I have added SOX11 to the panel 'Paediatric disorders - additional genes' as a Green gene based on the review by Alisdair McNeil, so that SOX11 will feature as a Green gene on the 'Paediatric disorders' Super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.128 | SOX11 | alisdair mcneill reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SOX11 | Rebecca Foulger reviewed gene: SOX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX11 were set to 24886874; 26543203 Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866 Mode of pathogenicity for gene: SOX11 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||