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  3. EIF2B3
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Leukodystrophy - adult onset

Gene: EIF2B3

Green List (high evidence)
EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000070785
EnsemblGeneIds (GRCh37): ENSG00000070785
OMIM: 606273, Gene2Phenotype
EIF2B3 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

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, MIM#603896, MONDO:0011380
OMIM
606273
Clinvar variants
Variants in EIF2B3
Penetrance
None
Publications
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: eif2b3 has been classified as Green List (High Evidence).

16 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF2B3 were changed from Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896, MONDO:0011380

16 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EIF2B3 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: EIF2B3 was added gene: EIF2B3 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896