1. Genes and Genomic Entities
  2. EPRS

EPRS

glutamyl-prolyl-tRNA synthetase
OMIM: 138295, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green EPRS in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.13
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 15, MIM# 617951
    Tags
    • new-gene-name
    Green EPRS in Adult onset leukodystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 15, OMIM:617951
    Tags
    • new-gene-name
    Green EPRS in Optic neuropathy


    Level 2: Ophthalmology
    Version 5.48
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 15, MIM# 617951
    Tags
    • new-gene-name
    Green EPRS in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Hypomyelinating Leukodystrophy
    Tags
    • new-gene-name