Rebecca Foulger edited their review of gene: EARS2: 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
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review from Zornitza plus sufficient cases (>3) of seizures and/or epilepsy in patients from the literature (PMIDs:22492562, 26619324, 27117034, 27206875) for inclusion on panel.
Rebecca Foulger Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) to Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL); Drug-refractory seizures; Epilepsy
Rebecca Foulger Phenotypes for gene: EARS2 were changed from Combined oxidative phosphorylation deficiency 12, 614924 to Combined oxidative phosphorylation deficiency 12, 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)