Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: EIF2B5
EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)
EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
POI is a feature of his neurological disorder.Created: 13 Dec 2020, 10:23 p.m. | Last Modified: 13 Dec 2020, 10:23 p.m.
Panel Version: 0.174
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ovarioleukodystrophy, MIM# 603896
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, 11:07 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
- Royal Melbourne Hospital
- Expert list
- Phenotypes
-
- Ovarioleukodystrophy 603896
- OMIM
- 603945
- Clinvar variants
- Variants in EIF2B5
- Penetrance
- None
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Leukodystrophy - paediatric
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
- Primary Ovarian Insufficiency_Premature Ovarian Failure
History Filter Activity
13 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eif2b5 has been classified as Green List (High Evidence).
17 Jun 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EIF2B5 was added gene: EIF2B5 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Ovarioleukodystrophy 603896