White matter disorders and cerebral calcification - narrow panel
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
-
- 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
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)