1. Panels
  2. Leukodystrophy - adult onset
  3. EPRS
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - adult onset

Gene: EPRS

Green List (high evidence)
EPRS (glutamyl-prolyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000136628
EnsemblGeneIds (GRCh37): ENSG00000136628
OMIM: 138295, Gene2Phenotype
EPRS is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported with this neurodegenerative disorder. Onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, dysphagia, severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum.
Sources: Expert list
Created: 5 Jan 2020, 5:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM# 617951

Publications

Created: 5 Jan 2020, 5:02 a.m.

Panel version: Imported from Leukodystrophy panel version 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Leukodystrophy, hypomyelinating, 15, MIM#617951
OMIM
138295
Clinvar variants
Variants in EPRS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eprs has been classified as Green List (High Evidence).

3 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EPRS were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EPRS was added gene: EPRS was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951