Primary ovarian insufficiency

Gene: EIF2B4

Amber List (moderate evidence)

EIF2B4 (eukaryotic translation initiation factor 2B subunit delta)
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 only
Created: 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.

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