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Early onset or syndromic epilepsy v1.191 ETHE1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ETHE1.
Early onset or syndromic epilepsy v1.190 ETHE1 Rebecca Foulger Source NHS GMS was added to ETHE1.
Early onset or syndromic epilepsy v1.189 ETHE1 Rebecca Foulger edited their review of gene: ETHE1: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 ETHE1 Tracy Lester reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528888; Phenotypes: Ethylmalonic encephalopathy, 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1321 ETHE1 Rebecca Foulger Marked gene: ETHE1 as ready
Early onset or syndromic epilepsy v0.1321 ETHE1 Rebecca Foulger Gene: ethe1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1226 ETHE1 Rebecca Foulger Classified gene: ETHE1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1226 ETHE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza. Confirmed DD-G2P gene for Ethylmalonic encephalopathy (EE) which can present with seizures. Sufficient cases of patients with EE and seizures for inclusion on panel (as summarised by PMID:26194623).
Early onset or syndromic epilepsy v0.1226 ETHE1 Rebecca Foulger Gene: ethe1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1225 ETHE1 Rebecca Foulger Marked gene: ETHE1 as ready
Early onset or syndromic epilepsy v0.1225 ETHE1 Rebecca Foulger Gene: ethe1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1225 ETHE1 Rebecca Foulger commented on gene: ETHE1: PMID:26194623 (Papetti et al 2015) report on a baby with severe early onset EE associated with a novel ETHE1 gene variant and a an early pure epileptic onset. They also provide a summary of all previous EE cases. A large proportion report seizures- although the earlier cases don't report a ETHE1 gene defect, there are sufficient cases with both seizures and an ETHE1 variant reported.
Early onset or syndromic epilepsy v0.1225 ETHE1 Rebecca Foulger commented on gene: ETHE1
Early onset or syndromic epilepsy v0.1223 ETHE1 Rebecca Foulger Mode of inheritance for gene: ETHE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1222 ETHE1 Rebecca Foulger Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy, 602473
Early onset or syndromic epilepsy ETHE1 Zornitza Stark reviewed gene: ETHE1
Early onset or syndromic epilepsy ETHE1 Sarah Leigh Added gene to panel