Bilateral congenital or childhood onset cataracts
Gene: EIF2B2
EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 12 panels
1 review
Ivone Leong (Genomics England Curator)
EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71).
There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:49 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: EIF2B2; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leukoencephalopathy with vanishing white matter, 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
6 Sep 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: eif2b2 has been classified as Green List (High Evidence).
28 Aug 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: EIF2B2 was added gene: EIF2B2 was added to Cataracts. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 28041799; 21484434; 14566705 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896