06 Aug 2019
Early onset or syndromic epilepsy v1.191
GRIN2D
Rebecca Foulger Source Wessex and West Midlands GLH was added to GRIN2D.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GRIN2D
Rebecca Foulger Source NHS GMS was added to GRIN2D.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GRIN2D
Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
06 Dec 2018
Early onset or syndromic epilepsy v0.1464
GRIN2D
Sarah Leigh Marked gene: GRIN2D as ready
06 Dec 2018
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.
06 Dec 2018
Early onset or syndromic epilepsy v0.1464
GRIN2D
Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence).
06 Dec 2018
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
06 Dec 2018
Early onset or syndromic epilepsy v0.1463
GRIN2D
Sarah Leigh Added comment: Comment on phenotypes: Epileptic encephalopathy, early infantile, 46 617162
06 Dec 2018
Early onset or syndromic epilepsy v0.1463
GRIN2D
Sarah Leigh Phenotypes for gene: GRIN2D were changed from to Epileptic encephalopathy, early infantile, 46 617162
06 Dec 2018
Early onset or syndromic epilepsy v0.1462
GRIN2D
Sarah Leigh Publications for gene: GRIN2D were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1461
GRIN2D
Sarah Leigh Classified gene: GRIN2D as Green List (high evidence)
06 Dec 2018
Early onset or syndromic epilepsy v0.1461
GRIN2D
Sarah Leigh Gene: grin2d has been classified as Green List (High Evidence).
06 Dec 2018
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
14 Aug 2018
Early onset or syndromic epilepsy
GRIN2D
Zornitza Stark reviewed gene: GRIN2D
25 Jun 2018
Early onset or syndromic epilepsy
GRIN2D
Sarah Leigh Added gene to panel