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
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Primary ovarian insufficiency
- Ataxia and cerebellar anomalies - narrow panel
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
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