Genomics England
GMS Panels
Panels
Genes and Entities

EPRS

glutamyl-prolyl-tRNA synthetase
OMIM: 138295
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, OMIM:617951
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM# 617951
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM# 617951