Early onset or syndromic epilepsy
Gene: EARS2EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
AR Combined oxidative phosphorylation defic 12 - mitochondrial neurologic disorder characterised by onset in infancy of hypotonia and delayed psychomotor development or early developmental regression. Steenweg et al, 2012 - 6 year old Italian boy - seizures developed at 6 months of age. Identified an additional 11 patients with similar pheno, incl 2 aff brothers. 4 patients - severe - all had epilespy, 8 patients - mild - some had epilepsy (2/6). All patients found to have compound het variants. Taim et al, 2013 - male infant born to consang parents - no seizures but died at 3 months of age - hom variant detected.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
Combined oxidative phosphorylation deficiency, 614924
Publications
Rebecca Foulger (Genomics England curator)
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 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.Created: 26 Nov 2018, 11:22 a.m.
Oliveira et al (PMID:27571996, 2017) review cases of patients with EARS2 variants (Supplementary material). Seizures and/or Epilepsy are recorded in Patients 1 and 9 from Steenwag et al., 2012 (PMID:22492562), Kevelam et al 2016 (PMID:26619324), Gungor et al, 2016 (PMID:27117034) and Sahin et al., 2016 (PMID:27206875). Note that Sahin et al., 2016 (PMID:27206875) report clinical findings for two siblings with pathogenic variants in EARS2; only the younger brother had seizures amongst his symptoms.Created: 26 Nov 2018, 11:16 a.m.
Zornitza Stark (Australian Genomics)
Seizures are a common feature of this metabolic disorder.Created: 13 Aug 2018, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 12, MIM#614924
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 12, 614924
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- Drug-refractory seizures
- Epilepsy
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
- Mitochondrial disorders
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to EARS2.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to EARS2.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Zornitza Stark: Seizures are a common feature
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ears2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ears2 has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: EARS2 were set to
Set Phenotypes
Rebecca Foulger (Genomics England curator)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
Set Phenotypes
Rebecca Foulger (Genomics England curator)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)
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, 614924
Added New Source
Sarah Leigh (Genomics England Curator)Expert Review Amber was added to EARS2. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)EARS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)EARS2 was created by Sarah Leigh