Genomics England
GMS Panels
Panels
Genes and Entities
EPRS
glutamyl-prolyl-tRNA synthetase
OMIM:
138295
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Panel
Mode of inheritance
Details
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1 panel
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in
White matter disorders - adult onset
R-numbers:
R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, OMIM:617951