Ataxia - adult onset
Gene: EIF2B2

EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported, marked phenotypic variability, age of onset from infancy to adulthood.
Created: 12 Dec 2021, 10 a.m. | Last Modified: 12 Dec 2021, 10 a.m.

Panel Version: 0.10201

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896

Publications

Created: 12 Dec 2021, 10 a.m.
Last Modified: 12 Dec 2021, 10 a.m.
Panel version: Imported from Mendeliome panel version 0.10201

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert list
Created: 16 Apr 2020, 11:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter MIM#603896

Created: 16 Apr 2020, 11:02 p.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.97

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Royal Melbourne Hospital
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Leukoencephalopathy with vanishing white matter, 603896
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease

OMIM

606454

Clinvar variants

Variants in EIF2B2

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: EIF2B2 was added gene: EIF2B2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 31438897 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease

Ataxia - adult onset Gene: EIF2B2