Inherited white matter disorders
Gene: EARS2EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. More than 3 unrelated cases, and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). Green gene in the Mitochondrial panel version 1.7.Created: 16 Aug 2016, 9:54 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_627
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Combined oxidative phosphorylation deficiency 12
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for EARS2 were set to Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL);General Leukodystrophy & Mitochondrial Leukoencephalopathy;Combined oxidative phosphorylation deficiency 12
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EARS2 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ian Berry (Leeds Genetics Laboratory)EARS2 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)EARS2 was created by [email protected]