Early onset or syndromic epilepsy
Gene: ETHE1
AR ethylmalonic encephalopathy (EE). Metabolic disorder. Some cases reported with epilepsy as a feature - Drousiotou et al, 2011 - 3 patients, 2 unrelated Greek-Cypriot families = all patients had seizures -2 diff variants detected 1 hom 1 compound het with another variant. Chicago gene panel info - Papetti et al, patient had an early pure epileptic onset - compound het variants.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473
Publications
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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).Created: 29 Nov 2018, 11:23 a.m.
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.Created: 29 Nov 2018, 11:22 a.m.
In 14 patients with ethylmalonic encephalopathy, Mineri et al. (2008, PMID:18593870) identified homozygosity for mutations in the ETHE1 gene. Three patients (patients 2, 3, and 4) had seizures reported amongst their symptoms.Created: 29 Nov 2018, 11:22 a.m.
Seizures are a feature of this metabolic disorder.Created: 13 Aug 2018, 11:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, MIM#602473
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to ETHE1.
Source NHS GMS was added to ETHE1.
Zornitza Stark: Seizures are a feature of this
Gene: ethe1 has been classified as Green List (High Evidence).
Gene: ethe1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ETHE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy, 602473
Expert Review Amber was added to ETHE1. Panel: Genetic Epilepsy Syndromes
ETHE1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ETHE1 was created by Sarah Leigh