Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Early onset or syndromic epilepsy v1.191 NGLY1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NGLY1.
Early onset or syndromic epilepsy v1.190 NGLY1 Rebecca Foulger Source NHS GMS was added to NGLY1.
Early onset or syndromic epilepsy v1.189 NGLY1 Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NGLY1 Tracy Lester reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.1500 NGLY1 Ellen McDonagh Classified gene: NGLY1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1500 NGLY1 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures.
Early onset or syndromic epilepsy v0.1500 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Marked gene: NGLY1 as ready
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Classified gene: NGLY1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Added comment: Comment on list classification: Promoted to Green due to expert review and enough evidence for N-glycanase 1 deficiency to cause seizures.
Early onset or syndromic epilepsy v0.1499 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1498 NGLY1 Ellen McDonagh Added comment: Comment on publications: PMID: 24651605 - 4 out of 8 patients with deficiency of N-glycanase 1 had seizures as a clinical feature.
Early onset or syndromic epilepsy v0.1498 NGLY1 Ellen McDonagh Publications for gene: NGLY1 were set to 22581936; 24651605
Early onset or syndromic epilepsy v0.1496 NGLY1 Ellen McDonagh Added comment: Comment on publications: PMID: 22581936 - describes a male patient with developmental delay, multifocal epilepsy, involuntary movements, abnormal liver function, absent tears. Sequencing revealed a frameshift variant inherited from his mother and a nonsense mutation from his father.
Early onset or syndromic epilepsy v0.1496 NGLY1 Ellen McDonagh Publications for gene: NGLY1 were set to
Early onset or syndromic epilepsy v0.1495 NGLY1 Ellen McDonagh Mode of inheritance for gene: NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1493 NGLY1 Ellen McDonagh Classified gene: NGLY1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1493 NGLY1 Ellen McDonagh Added comment: Comment on list classification: This is a Green gene on the Congenital disorders of glycosylation (Version 1.20) gene panel, with more than 4 families/cases with Congenital disorder of deglycosylation reported with variants in this gene.
Early onset or syndromic epilepsy v0.1493 NGLY1 Ellen McDonagh Gene: ngly1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1492 NGLY1 Ellen McDonagh Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation 615273
Early onset or syndromic epilepsy NGLY1 Zornitza Stark reviewed gene: NGLY1
Early onset or syndromic epilepsy NGLY1 Sarah Leigh Added gene to panel