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Early onset or syndromic epilepsy v1.445 GSS Rebecca Foulger Classified gene: GSS as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.445 GSS Rebecca Foulger Gene: gss has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.444 GSS Rebecca Foulger commented on gene: GSS: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.416 GSS Rebecca Foulger Publications for gene: GSS were set to 26984560
Early onset or syndromic epilepsy v1.415 GSS Rebecca Foulger commented on gene: GSS: PMID:26669244 (Gunduz et al., 2016) report 4 patients with GS deficiency. Case I and Case IV had seizures noted together with homozygous variants (splicing variant in I and p.R125H in IV): Table 1.
Early onset or syndromic epilepsy v1.415 GSS Rebecca Foulger commented on gene: GSS: Seizures are recorded in OMIM Clinical synopsis for MIM:266130 based on Marstein et al., 1976 (no PubMed).
Early onset or syndromic epilepsy v1.415 GSS Rebecca Foulger commented on gene: GSS: PMID:15990954 (Njallson et al 2005) summarise the phenotypes of patients with glutathione synthetase deficiency, but don't mention seizures or epilepsy (as noted in review by Tracy Lester).
Early onset or syndromic epilepsy v1.415 GSS Rebecca Foulger commented on gene: GSS: PMID:11445798 (Ristoff et al,. 2001) examined 28 patients with Glutathione synthetase deficiency (GSSD). Diagnosis was based on metabolic tests. 16/28 had neurological symptoms such as seizures/psychomotor retardation. In 16 patients with severe GS deficiency, 7 had seizures.
Early onset or syndromic epilepsy v1.415 GSS Rebecca Foulger commented on gene: GSS: PMID:26984560 (Atwal et al. 2016) present a 19 year old female with Glutathione synthetase deficiency (GSSD). She was diagnosed with a mild seizure disorder age 10, and treated with the antiepileptic lamotrigine, which was discontinued once she was seizure free for 5 years. The authors note it is possible her seizures were unrelated to the underlying GSSD.
Early onset or syndromic epilepsy v1.415 GSS Rebecca Foulger Publications for gene: GSS were set to
Early onset or syndromic epilepsy v1.191 GSS Rebecca Foulger Source Wessex and West Midlands GLH was added to GSS.
Early onset or syndromic epilepsy v1.190 GSS Rebecca Foulger Source NHS GMS was added to GSS.
Early onset or syndromic epilepsy v1.189 GSS Rebecca Foulger reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GSS Tracy Lester reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: 26984560; Phenotypes: Glutathione synthetase deficiency,266130, Hemolytic anemia due to glutathione synthetase deficiency,231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy GSS Sarah Leigh Added gene to panel