Primary ovarian insufficiency
Gene: EIF2B4
EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000115211
EnsemblGeneIds (GRCh37): ENSG00000115211
OMIM: 606687, Gene2Phenotype
EIF2B4 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000115211
EnsemblGeneIds (GRCh37): ENSG00000115211
OMIM: 606687, Gene2Phenotype
EIF2B4 is in 11 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as reported in two patients onlyCreated: 30 May 2017, 11:58 a.m.
Biallelic variants reported in 2 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 Amber
- Literature
- Phenotypes
-
- Ovarioleukodystrophy 603896
- OMIM
- 606687
- Clinvar variants
- Variants in EIF2B4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Early onset or syndromic epilepsy
- Dystonia, chorea or related movement disorder, childhood onset
- Primary ovarian insufficiency
- Neurodegenerative disorders, adult onset
- DDG2P
- Inherited white matter disorders
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
History Filter Activity
31 May 2017, Gel status: 2
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: 2
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
30 May 2017, Gel status: 2
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)EIF2B4 was created by arianna
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)EIF2B4 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature