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Ataxia - paediatric

Gene: EIF2B2

Green List (high evidence)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
OMIM
606454
Clinvar variants
Variants in EIF2B2
Penetrance
None
Panels with this gene

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2b2 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2b2 has been classified as Green List (High Evidence).

16 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: EIF2B2 was added gene: EIF2B2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter MIM#603896 Review for gene: EIF2B2 was set to GREEN