Hereditary ataxia
Gene: EIF2B4EnsemblGeneIds (GRCh38): ENSG00000115211
EnsemblGeneIds (GRCh37): ENSG00000115211
OMIM: 606687, Gene2Phenotype
EIF2B4 is in 11 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:08 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Evidence in lit. Not on our panelCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
- OMIM
- 606687
- Clinvar variants
- Variants in EIF2B4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Primary ovarian insufficiency
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene EIF2B4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B4 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B4 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services