Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: EIF4ENIF1

EIF4ENIF1 (eukaryotic translation initiation factor 4E nuclear import factor 1)
EnsemblGeneIds (GRCh38): ENSG00000184708
EnsemblGeneIds (GRCh37): ENSG00000184708
OMIM: 607445, Gene2Phenotype
EIF4ENIF1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

3 families: A missense (p.Q842P) segregated between a mother and daughter with diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI). A nonsense variant (p.Ser429Ter) segregated in 7 affected women over 3 consecutive generations with early menopause at approximately age 30 years. A missense (p.Lys669Arg) was identified in a Brazilian case with POI.
Created: 11 Dec 2020, 4 a.m. | Last Modified: 11 Dec 2020, 4 a.m.

Panel Version: 0.105

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 11 Dec 2020, 4 a.m.
Last Modified: 11 Dec 2020, 4 a.m.
Panel version: 0.105

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genetic Health QLD

Phenotypes

Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related

OMIM

607445

Clinvar variants

Variants in EIF4ENIF1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).

8 Oct 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related

11 Dec 2020, Gel status: 2