Genomics England
GMS Panels
Panels
Genes and Entities

YARS

tyrosyl-tRNA synthetase
OMIM: 603623
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate C 608323, Intellectual disability, deafness, nystagmus, liver dysfunction
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth disease, dominant intermediate C, 608323