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Genetic epilepsy syndromes

Gene: EARS2

Green List (high evidence)

EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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)

I don't know

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)

Green List (high evidence)

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to EARS2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EARS2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a common feature

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ears2 has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ears2 has been classified as Green List (High Evidence).

26 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: EARS2 were set to

26 Nov 2018, Gel status: 2

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

26 Nov 2018, Gel status: 2

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)

26 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal

26 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, 614924

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to EARS2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EARS2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

EARS2 was created by Sarah Leigh