Cataract
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with vanishing white matter, MIM# 603896
Seb Lunke (Victorian Clinical Genetics Services)
From GEL: 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.
Sources: LiteratureCreated: 7 Jul 2020, 11:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
leukodystrophy; congenital cataracts
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- leukodystrophy
- congenital cataracts
- Leukoencephalopathy with vanishing white matter, MIM# 603896
- OMIM
- 606454
- Clinvar variants
- Variants in EIF2B2
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EIF2B2 were changed from leukodystrophy; congenital cataracts to leukodystrophy; congenital cataracts; Leukoencephalopathy with vanishing white matter, MIM# 603896
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: eif2b2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: eif2b2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: EIF2B2 was added gene: EIF2B2 was added to Cataract. Sources: Literature Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 21484434; 14566705; 28041799 Phenotypes for gene: EIF2B2 were set to leukodystrophy; congenital cataracts gene: EIF2B2 was marked as current diagnostic