Mitochondrial disorders
Gene: YARS2

YARS2 (tyrosyl-tRNA synthetase 2)
EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 8:32 a.m.

Comment on list classification: Carl Fratter also confirmed that this gene should be green.
Created: 15 Mar 2016, 8:31 a.m.

Created: 15 Mar 2016, 8:31 a.m.

Panel version: 0.518

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

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)
Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561

OMIM

610957

Clinvar variants

Variants in YARS2

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to YARS2. Panel: Mitochondrial disorders

15 Mar 2016, Gel status: 4