This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: EARS2
EARS2 (glutamyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- None
- Panels with this gene
-
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Likely inborn error of metabolism
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)EARS2 was added to Mitochondrial disorders AD Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)EARS2 was created by Sarah Leigh