Childhood onset dystonia, chorea or related movement disorder
Gene: EARS2

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

2 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Severe cases can have dystonia
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH
Expert Review Red
London North GLH

Phenotypes

Combined oxidative phosphorylation deficiency 12, 614924

OMIM

612799

Clinvar variants

Variants in EARS2

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to EARS2. Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: EARS2 was added gene: EARS2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EARS2 was set to

Childhood onset dystonia, chorea or related movement disorder Gene: EARS2