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  3. EARS2
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Leukodystrophy - adult onset

Gene: EARS2

Red List (low evidence)
EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple families reported, onset typically in infancy/childhood.
Created: 4 May 2020, 10:40 p.m. | Last Modified: 4 May 2020, 10:40 p.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 12, MIM# 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate

Publications

Created: 4 May 2020, 10:40 p.m.
Last Modified: 4 May 2020, 10:40 p.m.
Panel version: 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate
OMIM
612799
Clinvar variants
Variants in EARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ears2 has been classified as Red List (Low Evidence).

4 May 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EARS2 were set to

4 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ears2 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EARS2 was added gene: EARS2 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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