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  3. EIF2B4
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Ataxia - paediatric

Gene: EIF2B4

Green List (high evidence)
EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000115211
EnsemblGeneIds (GRCh37): ENSG00000115211
OMIM: 606687, Gene2Phenotype
EIF2B4 is in 12 panels

1 review

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, 11:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter MIM#603896

Created: 16 Apr 2020, 11:05 p.m.

Panel version: 0.103

History Filter Activity

16 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: eif2b4 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: eif2b4 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: EIF2B4 was added gene: EIF2B4 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter MIM#603896 Review for gene: EIF2B4 was set to GREEN