Primary ovarian insufficiency

Gene: EIF4ENIF1

Amber List (moderate evidence)

EIF4ENIF1 (eukaryotic translation initiation factor 4E nuclear import factor 1)
EnsemblGeneIds (GRCh38): ENSG00000184708
EnsemblGeneIds (GRCh37): ENSG00000184708
OMIM: 607445, Gene2Phenotype
EIF4ENIF1 is in 1 panel

1 review

Arianna Tucci (Genomics England Curator)

I don't know

Comment when marking as ready: Marked as amber as only one family described
Created: 22 May 2017, 9:30 a.m.
Limited evidence of association with the phenotype. Phenotype associated not in OMIM. One paper in pubmed (23902945), which describes one large family with 7 affected patients carrying one heterozygous stop codon mutation in (Ser429X) in eIF4ENIF1.
Created: 10 May 2017, 12:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary Ovarian Insufficiency

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Expert list
Phenotypes
  • premature ovarian failure
  • Primary ovarian insufficiency
OMIM
607445
Clinvar variants
Variants in EIF4ENIF1
Penetrance
Complete
Publications
Panels with this gene

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.

25 May 2017, Gel status: 2

Added New Source

Arianna Tucci (Genomics England Curator)

EIF4ENIF1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Literature

22 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).

22 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).

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF4ENIF1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

EIF4ENIF1 was created by ellenmcdonagh