YARS2

tyrosyl-tRNA synthetase 2
OMIM: 610957, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green YARS2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Green YARS2 in Red cell disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Green
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

Green YARS2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Green YARS2 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561