×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
CLINVAR
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
30026338
2018
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
BEFREE
<i>In vitro</i> amino-acylation assays of five novel missense variants showed that three had less effect on the catalytic activity of YARS2 than the most commonly reported variant, p.(Phe52Leu) , associated with MLASA2 , which may explain the milder phenotypes in patients with these variants.
30026338
2018
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
CausalMutation
disease
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545
2016
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
Biomarker
disease
GENOMICS_ENGLAND
Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2 ), a type of mitochondrial disease.
24430573
2014
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
BEFREE
Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease.
24430573
2014
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
CLINVAR
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
23918765
2013
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
Biomarker
disease
GENOMICS_ENGLAND
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
24344687
2013
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
CLINVAR
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
24344687
2013
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
UNIPROT
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
22504945
2012
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
Biomarker
disease
GENOMICS_ENGLAND
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
20598274
2010
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
CLINVAR
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
20598274
2010
×
Entrez Id:
51067
Gene Symbol:
YARS2
YARS2
0.620
GeneticVariation
disease
UNIPROT
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
20598274
2010