Activity
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| DDG2P v3.12 | GRIN2A | Achchuthan Shanmugasundram reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 35983985, 20890276, 23933818; Phenotypes: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT INTELLECTUAL DEVELOPMENTAL DISORDER, OMIM:245570, Autosomal recessive GRIN2A-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | GRIN2A | Achchuthan Shanmugasundram Publications for gene: GRIN2A were updated from 23933818 to 23033978; 35983985; 20890276; 23933818 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | GRIN2A | Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | GRIN2A |
Rebecca Foulger Added phenotypes LANDAU-KLEFFNER SYNDROME 245570 for gene: GRIN2A Publications for gene GRIN2A were changed from 20890276; 23033978 to 23933818 |
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| DDG2P v0.1 | GRIN2A |
Rebecca Foulger gene: GRIN2A was added gene: GRIN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRIN2A were set to 20890276; 23033978 Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 |
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