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Red cell disorders

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

Danielle Ariti (University of Melbourne)

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: 6 Sep 2021, 11:56 p.m. | Last Modified: 6 Sep 2021, 11:56 p.m.
Panel Version: 0.55

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

Created: 6 Sep 2021, 11:56 p.m.
Last Modified: 6 Sep 2021, 11:56 p.m.
Panel version: 0.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
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 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 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 23918765; 22504945; 20598274

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were updated from 23918765; 20598274; 22504945 to 23918765; 22504945; 20598274

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YARS2 was added gene: YARS2 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 23918765; 20598274; 22504945 Phenotypes for gene: YARS2 were set to 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561