Primary ovarian insufficiency

Gene: EIF2B5

Green List (high evidence)

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)
EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 11 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clear POI phenotype
Created: 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 reported
Created: 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.

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