Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Early onset or syndromic epilepsy v1.191 GRIN2D Rebecca Foulger Source Wessex and West Midlands GLH was added to GRIN2D.
Early onset or syndromic epilepsy v1.190 GRIN2D Rebecca Foulger Source NHS GMS was added to GRIN2D.
Early onset or syndromic epilepsy v1.189 GRIN2D Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GRIN2D Tracy Lester reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616483, 30280376 ; Phenotypes: Epileptic encephalopathy, early infantile, 617162; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Marked gene: GRIN2D as ready
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in five unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1464 GRIN2D Sarah Leigh Mode of inheritance for gene: GRIN2D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy v0.1463 GRIN2D Sarah Leigh Added comment: Comment on phenotypes: Epileptic encephalopathy, early infantile, 46 617162
Early onset or syndromic epilepsy v0.1463 GRIN2D Sarah Leigh Phenotypes for gene: GRIN2D were changed from to Epileptic encephalopathy, early infantile, 46 617162
Early onset or syndromic epilepsy v0.1462 GRIN2D Sarah Leigh Publications for gene: GRIN2D were set to
Early onset or syndromic epilepsy v0.1461 GRIN2D Sarah Leigh Classified gene: GRIN2D as Green List (high evidence)
Early onset or syndromic epilepsy v0.1461 GRIN2D Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1457 GRIN2D Konstantinos Varvagiannis reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616483, 30280376; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy GRIN2D Zornitza Stark reviewed gene: GRIN2D
Early onset or syndromic epilepsy GRIN2D Sarah Leigh Added gene to panel