Ataxia - paediatric
Gene: EIF2B3
EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000070785
EnsemblGeneIds (GRCh37): ENSG00000070785
OMIM: 606273, Gene2Phenotype
EIF2B3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000070785
EnsemblGeneIds (GRCh37): ENSG00000070785
OMIM: 606273, Gene2Phenotype
EIF2B3 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert listCreated: 16 Apr 2020, 11:04 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
- 606273
- Clinvar variants
- Variants in EIF2B3
- Penetrance
- None
- Panels with this gene
History Filter Activity
16 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: eif2b3 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: eif2b3 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: EIF2B3 was added gene: EIF2B3 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter MIM#603896 Review for gene: EIF2B3 was set to GREEN