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Early onset or syndromic epilepsy v1.254 SLC2A1 Ellen McDonagh edited their review of gene: SLC2A1: Added comment: Added the tag 'treatable' as a ketogenic diet can help ameloriate symptoms (PMID: 29303961).; Changed publications: 29303961
Early onset or syndromic epilepsy v1.254 SLC2A1 Ellen McDonagh Tag treatable tag was added to gene: SLC2A1.
Early onset or syndromic epilepsy v1.191 SLC2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC2A1.
Early onset or syndromic epilepsy v1.190 SLC2A1 Rebecca Foulger Source NHS GMS was added to SLC2A1.
Early onset or syndromic epilepsy v1.189 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20129935; Phenotypes: Dystonia 9,601042, GLUT1 deficiency syndrome 1, infantile onset, severe,606777, GLUT1 deficiency syndrome 2, childhood onset,612126, Stomatin-deficient cryohydrocytosis with neurologic defects,608885, {Epilepsy, idiopathic generalized, susceptibility to, 12},614847; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.100 USP7 Rebecca Foulger commented on gene: USP7: PMID:30679821: Fountain et al., 2019 report on the clinical and genetic spectrum of 16 new and 7 previously reported (by PMID:26365382) individuals with USP7 heterozygous de novo variants. The variants include 2 deletions, 3 nonsense, 3 splice site variants and 8 missense variants. Seizures are recorded in 10/22 patients. Note that Patients 18 and 20 harbor additional variants in TMEM106B and SLC2A1, Patient 19 also has a de novo heterozygous 102.5-kb mosaic loss of uncertain significance at 10q21.1.
Early onset or syndromic epilepsy SLC2A1 Sarah Leigh Added gene to panel