White matter disorders and cerebral calcification - narrow panel
Gene: EIF2B2EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 12 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)
- Ovarioleukodystrophy, 603896
- OMIM
- 606454
- Clinvar variants
- Variants in EIF2B2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Primary ovarian insufficiency
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal anomalies
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Bilateral congenital or childhood onset cataracts
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: EIF2B2 was added gene: EIF2B2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 25655951 Phenotypes for gene: EIF2B2 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); Ovarioleukodystrophy, 603896