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Early onset or syndromic epilepsy v1.412 GLYCTK Rebecca Foulger commented on gene: GLYCTK: PMID:28462797 (Swanson et al., 2017) reviewed the Serbian patient from Sass et al., 2010. In addition to p.Phe483SerfsX2 variant in GLYCTK, the patient had an additional Ser117Leu variant in AMT highlighting the co-occurence of two metabolic conditions (D-glyceric aciduria and nonketotic hyperglycinemia).
Early onset or syndromic epilepsy v1.191 GAMT Rebecca Foulger Source Wessex and West Midlands GLH was added to GAMT.
Early onset or syndromic epilepsy v1.191 AMT Rebecca Foulger Source Wessex and West Midlands GLH was added to AMT.
Early onset or syndromic epilepsy v1.190 GAMT Rebecca Foulger Source NHS GMS was added to GAMT.
Early onset or syndromic epilepsy v1.190 AMT Rebecca Foulger Source NHS GMS was added to AMT.
Early onset or syndromic epilepsy v1.189 GAMT Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AMT Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GAMT Tracy Lester reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 19027335; Phenotypes: Cerebral creatine deficiency syndrome, 612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AMT Tracy Lester reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 25231368; Phenotypes: Glycine encephalopathy, 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1046 GAMT Louise Daugherty Marked gene: GAMT as ready
Early onset or syndromic epilepsy v0.1046 GAMT Louise Daugherty Gene: gamt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1044 GAMT Louise Daugherty Phenotypes for gene: GAMT were changed from Cerebral creatine deficiency syndrome 2, 612736; Seizures; Deficiency of guanidinoacetate methyltransferase to Cerebral creatine deficiency syndrome 2, 612736; Seizures; Deficiency of guanidinoacetate methyltransferase; GAMT deficiency
Early onset or syndromic epilepsy v0.1043 GAMT Louise Daugherty Publications for gene: GAMT were set to 15651030; 17101918; 15108290; 19027335
Early onset or syndromic epilepsy v0.1042 GAMT Louise Daugherty Classified gene: GAMT as Green List (high evidence)
Early onset or syndromic epilepsy v0.1042 GAMT Louise Daugherty Gene: gamt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1041 GAMT Louise Daugherty Publications for gene: GAMT were set to
Early onset or syndromic epilepsy v0.1039 GAMT Louise Daugherty Phenotypes for gene: GAMT were changed from Cerebral creatine deficiency syndrome 2, 612736; Seizures to Cerebral creatine deficiency syndrome 2, 612736; Seizures; Deficiency of guanidinoacetate methyltransferase
Early onset or syndromic epilepsy v0.1038 GAMT Louise Daugherty Mode of inheritance for gene: GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1037 GAMT Louise Daugherty Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2, 612736; Seizures
Early onset or syndromic epilepsy GAMT Zornitza Stark reviewed gene: GAMT
Early onset or syndromic epilepsy AMT Sarah Leigh marked gene: AMT as ready
Early onset or syndromic epilepsy AMT Sarah Leigh classified AMT as Green List (high evidence)
Early onset or syndromic epilepsy AMT Arianna Tucci reviewed gene: AMT
Early onset or syndromic epilepsy AMT Sarah Leigh Added gene to panel