Leukodystrophy - paediatric
Gene: EIF2B1
EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Age of onset can vary from infancy to adulthood.
Sources: Expert listCreated: 4 May 2020, 10:43 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 list
- Phenotypes
-
- Leukoencephalopathy with vanishing white matter, MIM# 603896
- OMIM
- 606686
- Clinvar variants
- Variants in EIF2B1
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
4 May 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eif2b1 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: eif2b1 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: EIF2B1 was added gene: EIF2B1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896 Review for gene: EIF2B1 was set to GREEN