Hereditary ataxia
Gene: EIF2B1EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 10 panels
2 reviews
Damian Smedley (Genomics England Curator)
Comment on list classification: Evidence from expert reviewer and OMIMCreated: 4 Feb 2016, 2:05 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Lots of evidence. 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; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
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
- Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
- OMIM
- 606686
- Clinvar variants
- Variants in EIF2B1
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Neonatal diabetes
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
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 EIF2B1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)EIF2B1 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services