Primary ovarian insufficiency

Gene: EIF2B2

Red List (low evidence)

EIF2B2 (eukaryotic translation initiation factor 2B subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000119718
EnsemblGeneIds (GRCh37): ENSG00000119718
OMIM: 606454, Gene2Phenotype
EIF2B2 is in 12 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

Low evidence presently.
Created: 9 Jun 2017, 4:22 p.m.

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as reported in 2 patients only
Created: 30 May 2017, 11:56 a.m.
Biallelic variants reported in 2 patients with POI and neurological abnormalities
Created: 26 May 2017, 10:55 a.m.

History Filter Activity

31 May 2017, Gel status: 1

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: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

EIF2B2 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

25 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

EIF2B2 was created by arianna