leukoencephalopathy with vanishing white matter 1
MONDO:0020507Mondo
Findings
No curated finding names leukoencephalopathy with vanishing white matter 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.
Definition from the Mondo Disease Ontology (MONDO:0020507), read 2026-09-29. CC BY 4.0.
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EIF2B1HGNC:3257
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- EIF2B2HGNC:3258
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- EIF2B3HGNC:3259
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- EIF2B4HGNC:3260
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- EIF2B5HGNC:3261
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
3 names
Resolves to: leukoencephalopathy with vanishing white matter 1
- Also called
- CACHchildhood ataxia with central nervous system hypomyelinizationvanishing white matter leukodystrophy