Ataxia - paediatric
Gene: EIF2B2EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported, marked phenotypic variability, age of onset from infancy to adulthood.Created: 12 Dec 2021, 10 a.m. | Last Modified: 12 Dec 2021, 10 a.m.
Panel Version: 0.10201
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896
Publications
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is a prominent feature of the condition and onset usually in late infancy or childhood (1 to 6 years).
Sources: Expert listCreated: 16 Apr 2020, 11:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter MIM#603896
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Phenotypes
-
- Leukoencephalopathy with vanishing white matter MIM#603896
- OMIM
- 606454
- Clinvar variants
- Variants in EIF2B2
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- Cataract
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: eif2b2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: eif2b2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EIF2B2 was added gene: EIF2B2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter MIM#603896 Review for gene: EIF2B2 was set to GREEN