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Mitochondrial disease

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families reported with bi-allelic missense and truncating variants; the c.156C4G (p.Phe52Leu) variant is common in the Turkish/ Lebanese population

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.
Created: 7 Sep 2021, 8:14 a.m. | Last Modified: 7 Sep 2021, 8:14 a.m.
Panel Version: 0.645

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561
  • sideroblastic anaemia
  • muscle atrophy
  • myopathy
  • lactic acidosis
  • Hypertrophic cardiomyopathy
  • Hepatomegaly
  • Decreased cytochrome C oxidase activity
OMIM
610957
Clinvar variants
Variants in YARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: YARS2 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity

7 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: YARS2 were set to

7 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YARS2 was added gene: YARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: YARS2 was set to Unknown