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  3. EIF2B2
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Leukodystrophy - 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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Age of onset can vary from infancy to adulthood.
Sources: Expert list
Created: 4 May 2020, 10:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter, MIM# 603896

Created: 4 May 2020, 10:45 p.m.

Panel version: 0.93

History Filter Activity

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 May 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2B2 was added gene: EIF2B2 was added to Leukodystrophy - 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