Cardiomyopathy_Paediatric
Gene: AARS2
AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London South GLH
- NHS GMS
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 8, 614096
- infantile mitochondrial cardiomyopathy
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
- OMIM
- 612035
- Clinvar variants
- Variants in AARS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Prepair 500+
- Callosome
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Rhabdomyolysis and Metabolic Myopathy
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AARS2 was added gene: AARS2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,London South GLH,Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; 21549344 Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)