1. Panels
  2. Prepair 1000+
  3. EIF2B4
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene -disease association. Variable clinical presentation. Characterized by a chronic progressive course with additional episodes of rapid deterioration provoked by fever and minor head trauma. Can exhibit severe phenotype and childhood age of onset.
Disease onset ranged from 4 months to 30 years of age across the EIF2B genes, with a mean of 3.9 years, and disease severity ranged from no neurologic signs, to death. No correlation between type of mutated EIF2B gene and the age at onset or disease severity (PMID: 15136673).
Ovarian failure has also been reported in females (Median age of onset of failure ~19 years of age, see PMID: 39139316)
Created: 2 Sep 2024, 4:46 a.m. | Last Modified: 2 Sep 2024, 4:46 a.m.
Panel Version: 1.248

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314

Publications

Created: 2 Sep 2024, 4:46 a.m.
Last Modified: 2 Sep 2024, 4:46 a.m.
Panel version: 1.248

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: eif2b4 has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: EIF2B4 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Leukoencephaly with vanishing white matter, 603896 (3) for gene: EIF2B4

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EIF2B4 was added gene: EIF2B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)