Ataxia and cerebellar anomalies - narrow panel
Gene: EIF2B3
EIF2B3 (eukaryotic translation initiation factor 2B subunit gamma)
EnsemblGeneIds (GRCh38): ENSG00000070785
EnsemblGeneIds (GRCh37): ENSG00000070785
OMIM: 606273, Gene2Phenotype
EIF2B3 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000070785
EnsemblGeneIds (GRCh37): ENSG00000070785
OMIM: 606273, Gene2Phenotype
EIF2B3 is in 10 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
- OMIM
- 606273
- Clinvar variants
- Variants in EIF2B3
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
- 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
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EIF2B3 was added gene: EIF2B3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease