EPRS

glutamyl-prolyl-tRNA synthetase
OMIM: 138295
PanelMode of inheritanceDetails
4 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, OMIM:617951
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating Leukodystrophy
R-numbers: R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM# 617951
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM# 617951