EARS2

glutamyl-tRNA synthetase 2, mitochondrial
OMIM: 612799, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green EARS2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy Combined oxidative phosphorylation deficiency 12 MIM# 614924
Green EARS2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Green EARS2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Green EARS2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	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
Green EARS2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Green EARS2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 12, MIM#614924
Red EARS2 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Combined oxidative phosphorylation deficiency 12 MIM#614924
Green EARS2 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 12, MIM# 614924 Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Green EARS2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 (3)
Green EARS2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Combined oxidative phosphorylation deficiency 12 MIM#614924