Leukodystrophy - adult onset
Gene: EIF2B5

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)
EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 12 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established leukodystrophy gene
Created: 14 Sep 2023, 10:37 p.m. | Last Modified: 14 Sep 2023, 10:37 p.m.

Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
leukoencephalopathy with vanishing white matter MONDO:0011380

Publications

20301435

Created: 14 Sep 2023, 10:37 p.m.
Last Modified: 14 Sep 2023, 10:37 p.m.
Panel version: 0.109

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Leukoencephalopathy with vanishing white matter, 603896

OMIM

603945

Clinvar variants

Variants in EIF2B5

Penetrance

None

Publications

20301435

Panels with this gene

History Filter Activity

16 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif2b5 has been classified as Green List (High Evidence).

16 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EIF2B5 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: EIF2B5 was added gene: EIF2B5 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896

Leukodystrophy - adult onset Gene: EIF2B5