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Prepair 1000+

Gene: YARS2

Green List (high evidence)
YARS2 (tyrosyl-tRNA synthetase 2)
EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 9 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

The phenotype of Myopathy, lactic acidosis, and sideroblastic anaemia 2 is highly variable with onset in infancy or early childhood, but most patients present with muscle atrophy, myopathy, lactic acidosis, and sideroblastic anaemia. Other features include Failure to thrive and Anaemia in infancy, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity and Exercise intolerance.
5 unrelated families reported with bi-allelic missense and truncating variants; the c.156C4G (p.Phe52Leu) variant is common in the Turkish/ Lebanese population.
Animal model present (Belgian Shepherd).
Created: 14 Oct 2024, 3:43 a.m. | Last Modified: 14 Oct 2024, 3:43 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561

Publications

Created: 14 Oct 2024, 3:43 a.m.
Last Modified: 14 Oct 2024, 3:43 a.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
OMIM
610957
Clinvar variants
Variants in YARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: yars2 has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: YARS2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) for gene: YARS2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YARS2 was added gene: YARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)