Possible mitochondrial disorder - nuclear genes
Gene: EARS2

EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 12, 614924

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green.
Created: 7 Mar 2016, 5:53 p.m.

Comment on list classification: Carl Fratter also agrees this should be green.
Created: 7 Mar 2016, 5:50 p.m.

Created: 7 Mar 2016, 5:50 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.488

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Combined oxidative phosphorylation deficiency 12, 614924

OMIM

612799

Clinvar variants

Variants in EARS2

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: EARS2 was added gene: EARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924

Possible mitochondrial disorder - nuclear genes Gene: EARS2