Mitochondrial 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: Promoted from red to green.Created: 7 Mar 2016, 5:53 p.m.
Comment on list classification: Carl Fratter also agrees this should be green.Created: 7 Mar 2016, 5:50 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 12, 614924
- OMIM
- 612799
- Clinvar variants
- Variants in EARS2
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Fetal anomalies
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to EARS2. Panel: Mitochondrial disorders
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 classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for EARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)EARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)EARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)EARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen