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Early onset or syndromic epilepsy v1.191 EARS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to EARS2.
Early onset or syndromic epilepsy v1.190 EARS2 Rebecca Foulger Source NHS GMS was added to EARS2.
Early onset or syndromic epilepsy v1.189 EARS2 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
Early onset or syndromic epilepsy v1.188 EARS2 Tracy Lester reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Marked gene: EARS2 as ready
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Gene: ears2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Classified gene: EARS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1128 EARS2 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.
Early onset or syndromic epilepsy v0.1128 EARS2 Rebecca Foulger Gene: ears2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1127 EARS2 Rebecca Foulger Publications for gene: EARS2 were set to
Early onset or syndromic epilepsy v0.1126 EARS2 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
Early onset or syndromic epilepsy v0.1125 EARS2 Rebecca Foulger commented on gene: EARS2
Early onset or syndromic epilepsy v0.1125 EARS2 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)
Early onset or syndromic epilepsy v0.1124 EARS2 Rebecca Foulger Mode of inheritance for gene: EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1123 EARS2 Rebecca Foulger Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, 614924
Early onset or syndromic epilepsy EARS2 Zornitza Stark reviewed gene: EARS2
Early onset or syndromic epilepsy EARS2 Sarah Leigh Added gene to panel