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Inborn errors of metabolism

Gene: YARS2

Green List (high evidence)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
OMIM
610957
Clinvar variants
Variants in YARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to YARS2. Source London North GLH was added to YARS2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were changed from to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: YARS2 was added gene: YARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561