Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | GRIN2B | Achchuthan Shanmugasundram reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24272827, 31085877, 23934111, 28377535, 23033978, 20890276, 23160955, 27605359, 23718928, 35393335, 30151416; Phenotypes: EPILEPTIC ENCEPHALOPATHY, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, OMIM:613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | GRIN2B | Achchuthan Shanmugasundram Publications for gene: GRIN2B were updated from 23934111 to 24272827; 31085877; 23934111; 28377535; 23033978; 20890276; 23160955; 27605359; 23718928; 35393335; 30151416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | GRIN2B | Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GRIN2B Publications for gene GRIN2B were changed from 20890276; 23160955; 23033978 to 23934111 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GRIN2B |
Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 for gene: GRIN2B Publications for gene GRIN2B were changed from 23160955 to 20890276; 23160955; 23033978 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GRIN2B |
Rebecca Foulger gene: GRIN2B was added gene: GRIN2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2B were set to 23160955 Phenotypes for gene: GRIN2B were set to AUTISM 209850 |