Sudden death in young people

Gene: AARS2

No list

AARS2 (alanyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000124608
EnsemblGeneIds (GRCh37): ENSG00000124608
OMIM: 612035, Gene2Phenotype
AARS2 is in 13 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Green on mitochondrial panel so will be applied in young cases.
Created: 19 Dec 2016, 3:30 p.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early infantile cardiac failure; infantile mitochondrial cardiomyopathy

Publications

Details

Mode of Inheritance
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
Tags
curated_removed
OMIM
612035
Clinvar variants
Variants in AARS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: AARS2.

19 Dec 2016, Gel status: 0

panel promoted to version 1

Ellen Thomas (Genomics England Curator)

This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.

19 Dec 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been removed from the panel.

29 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

AARS2 was added to Sudden death in young peoplepanel. Source: Other

29 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

AARS2 was added to Sudden death in young peoplepanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

AARS2 was added to Sudden death in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services

12 Aug 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AARS2 was added to Sudden death in young peoplepanel. Sources: Literature

12 Aug 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AARS2 was created by ellenmcdonagh