Mitochondrial disease
Gene: EARS2EnsemblGeneIds (GRCh38): ENSG00000103356
EnsemblGeneIds (GRCh37): ENSG00000103356
OMIM: 612799, Gene2Phenotype
EARS2 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
ClinGen Mitochondrial disease Expert Panel classifies the gene as DEFINITIVE for Leigh syndrome - Classification - 03/19/2020 >10 cases with early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate. Muscle biopsies show defective activity of mitochondrial complexes I, III, and IV. There is a mild and severe form of disease.Created: 7 Mar 2022, 9:39 a.m. | Last Modified: 7 Mar 2022, 9:39 a.m.
Panel Version: 0.702
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- Leigh syndrome MONDO:0009723
- Combined oxidative phosphorylation deficiency 12 MIM#614924
- leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ears2 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: EARS2 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EARS2 was added gene: EARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: EARS2 was set to Unknown