Primary ovarian insufficiency
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
Louise IZATT (GSTT Clinical Genetics Service)
Clear POI phenotypeCreated: 9 Jun 2017, 2:47 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, more than 3 variants reportedCreated: 30 May 2017, 12:01 p.m.
Biallelic variants reported in 3 patients with POI and neurological abnormalities
Created: 26 May 2017, 10:56 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ovarioleukodystrophy 603896
- OMIM
- 603945
- Clinvar variants
- Variants in EIF2B5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- DDG2P
- Primary ovarian insufficiency
- Hereditary ataxia
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
30 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 May 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)EIF2B5 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)EIF2B5 was created by arianna