AARS2

alanyl-tRNA synthetase 2, mitochondrial
OMIM: 612035, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green AARS2 in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure 615889

No list AARS2 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Other
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • early infantile cardiac failure
  • infantile mitochondrial cardiomyopathy
  • Combined Oxidative Phosphorylation Deficiency
  • Combined oxidative phosphorylation deficiency 8, 614096
  • fatal infantile hypertrophic mitochondrial cardiomyopathy

Green AARS2 in White matter disorders and cerebral calcification - narrow panel


Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy

Green AARS2 in White matter disorders - adult onset


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Leukoencephalopathy, progressive, with ovarian failure, 615889

Green AARS2 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy with ovarian failure
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy

Green AARS2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy

Green AARS2 in Inborn errors of metabolism


Version 2.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy

Green AARS2 in Possible mitochondrial disorder - nuclear genes


Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 8, 614096
  • Leukoencephalopathy, progressive, with ovarian failure, 615889

Red AARS2 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

review Not set
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Victorian Clinical Genetics Services

Green AARS2 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.3

review 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 8, 614096
  • infantile mitochondrial cardiomyopathy

Green AARS2 in Cardiomyopathies - including childhood onset


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)

Red AARS2 in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review Not set
Sources
  • Expert Review Red
  • London North GLH