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Ataxia - 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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association. The condition is also known as childhood ataxia with central nervous system hypomyelination / vanishing white matter (CACH/VWM) and is characterised by ataxia, spasticity, and variable optic atrophy.
Created: 30 Mar 2022, 2 a.m. | Last Modified: 30 Mar 2022, 2 a.m.
Panel Version: 0.12304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
leukoencephalopathy with vanishing white matter MONDO:0011380

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Mar 2022, 2 a.m.
Last Modified: 30 Mar 2022, 2 a.m.
Panel version: Imported from Mendeliome panel version 0.12304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
OMIM
606273
Clinvar variants
Variants in EIF2B3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EIF2B3 was added gene: EIF2B3 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B3 were set to 31438897 Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease