1. Panels
  2. Dystonia - complex
  3. EARS2
STRs in panel
Prev Next
Regions in panel
Prev Next

Dystonia - complex

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

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dystonia does not appear to be a prominent feature of the condition.
Sources: Expert list
Created: 5 Apr 2020, 6:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 12 MIM#614924

Publications

Created: 5 Apr 2020, 6:43 a.m.

Panel version: 0.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 12 MIM#614924
OMIM
612799
Clinvar variants
Variants in EARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 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).

5 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EARS2 was added gene: EARS2 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 22492562 Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12 MIM#614924 Review for gene: EARS2 was set to RED