Ataxia - 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

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. Ovarian failure can also be present in female cases.
Created: 30 Mar 2022, 2:32 a.m. | Last Modified: 30 Mar 2022, 2:32 a.m.

Panel Version: 0.12316

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, 2:32 a.m.
Last Modified: 30 Mar 2022, 2:32 a.m.
Panel version: Imported from Mendeliome panel version 0.12316

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

603945

Clinvar variants

Variants in EIF2B5

Penetrance

None

Publications

31438897

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: EIF2B5 was added gene: EIF2B5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B5 were set to 31438897 Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease

Ataxia - adult onset Gene: EIF2B5