White matter disorders and cerebral calcification - childhood onset
Gene: EIF2B1EnsemblGeneIds (GRCh38): ENSG00000111361
EnsemblGeneIds (GRCh37): ENSG00000111361
OMIM: 606686, Gene2Phenotype
EIF2B1 is in 10 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leukoencephalopathy with vanishing white matter, 603896
- Childhood Ataxia with Central Nervous System Hypomyelination
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- eIF2B related disorder (Vanishing WM Disease or CACH)
- OMIM
- 606686
- Clinvar variants
- Variants in EIF2B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Neonatal diabetes
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - childhood onset
- Dystonia, chorea or related movement disorder, childhood onset
- Inherited white matter disorders
- Hereditary ataxia
- Hereditary ataxia, adult onset
History Filter Activity
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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EIF2B1 was added gene: EIF2B1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B1 were set to 16807905; 25655951; 15776425 Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896; Childhood Ataxia with Central Nervous System Hypomyelination; General Leukodystrophy & Mitochondrial Leukoencephalopathy; eIF2B related disorder (Vanishing WM Disease or CACH)