Leukodystrophy - paediatric
Gene: EPRS
EPRS (glutamyl-prolyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000136628
EnsemblGeneIds (GRCh37): ENSG00000136628
OMIM: 138295, Gene2Phenotype
EPRS is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000136628
EnsemblGeneIds (GRCh37): ENSG00000136628
OMIM: 138295, Gene2Phenotype
EPRS is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 listCreated: 4 May 2020, 10:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM# 617951
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 15, MIM# 617951
- OMIM
- 138295
- Clinvar variants
- Variants in EPRS
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 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).
4 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).
4 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPRS was added gene: EPRS was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 29576217 Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM# 617951 Review for gene: EPRS was set to GREEN