White matter disorders and cerebral calcification - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- Combined oxidative phosphorylation deficiency 12
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Inherited white matter disorders
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
- Leukodystrophy, adult onset
- Intellectual disability
- Early onset dystonia
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EARS2 was added gene: EARS2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 25655951 Phenotypes for gene: EARS2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL); Combined oxidative phosphorylation deficiency 12