21 Nov 2019
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).
06 Aug 2019
Early onset or syndromic epilepsy v1.191
GAMT
Rebecca Foulger Source Wessex and West Midlands GLH was added to GAMT.
06 Aug 2019
Early onset or syndromic epilepsy v1.191
AMT
Rebecca Foulger Source Wessex and West Midlands GLH was added to AMT.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GAMT
Rebecca Foulger Source NHS GMS was added to GAMT.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
AMT
Rebecca Foulger Source NHS GMS was added to AMT.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GAMT
Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.189
AMT
Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
06 Aug 2019
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
21 Nov 2018
Early onset or syndromic epilepsy v0.1046
GAMT
Louise Daugherty Marked gene: GAMT as ready
21 Nov 2018
Early onset or syndromic epilepsy v0.1046
GAMT
Louise Daugherty Gene: gamt has been classified as Green List (High Evidence).
21 Nov 2018
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
21 Nov 2018
Early onset or syndromic epilepsy v0.1043
GAMT
Louise Daugherty Publications for gene: GAMT were set to 15651030; 17101918; 15108290; 19027335
21 Nov 2018
Early onset or syndromic epilepsy v0.1042
GAMT
Louise Daugherty Classified gene: GAMT as Green List (high evidence)
21 Nov 2018
Early onset or syndromic epilepsy v0.1042
GAMT
Louise Daugherty Gene: gamt has been classified as Green List (High Evidence).
21 Nov 2018
Early onset or syndromic epilepsy v0.1041
GAMT
Louise Daugherty Publications for gene: GAMT were set to
21 Nov 2018
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
21 Nov 2018
Early onset or syndromic epilepsy v0.1038
GAMT
Louise Daugherty Mode of inheritance for gene: GAMT was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Nov 2018
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
14 Aug 2018
Early onset or syndromic epilepsy
GAMT
Zornitza Stark reviewed gene: GAMT
17 Jul 2018
Early onset or syndromic epilepsy
AMT
Sarah Leigh marked gene: AMT as ready
17 Jul 2018
Early onset or syndromic epilepsy
AMT
Sarah Leigh classified AMT as Green List (high evidence)
05 Jul 2018
Early onset or syndromic epilepsy
AMT
Arianna Tucci reviewed gene: AMT
25 Jun 2018
Early onset or syndromic epilepsy
AMT
Sarah Leigh Added gene to panel