Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GMNN | Achchuthan Shanmugasundram reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637980; Phenotypes: Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | GMNN |
Achchuthan Shanmugasundram Source Expert Review Green was added to GMNN. Mode of pathogenicity for gene GMNN was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | GMNN | Rebecca Foulger reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GMNN |
Rebecca Foulger gene: GMNN was added gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GMNN were set to 26637980 Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments |