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  3. EPRS
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Regression

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

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

5 patients across 2 papers, with delayed development (3/5) and/or regression, ataxia, dystonia, hypomyelinating leukodystrophy or periventricular white matter abnormality, 2 with epilepsy, 3 with optic atrophy, 2 with deafness, 3 with microcephaly, 1 noted to have some facial dysmorphism.
Sources: Literature
Created: 1 Dec 2022, 4:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 15, MIM#617951

Publications

Created: 1 Dec 2022, 4:04 a.m.

Panel version: 0.509

Details

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

History Filter Activity

1 Dec 2022, 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).

1 Dec 2022, 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).

1 Dec 2022, Gel status: 0

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

Lucy Spencer (Victorian Clinical Genetics Services)

gene: EPRS was added gene: EPRS was added to Regression. Sources: Literature Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 36411955, 29576217 Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM#617951 Review for gene: EPRS was set to GREEN