Primary ovarian insufficiency
Gene: EIF4ENIF1EnsemblGeneIds (GRCh38): ENSG00000184708
EnsemblGeneIds (GRCh37): ENSG00000184708
OMIM: 607445, Gene2Phenotype
EIF4ENIF1 is in 1 panel
3 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Gene is not assiciated with a phenotype in OMIM or Gene2Phenotype. Gene will be kept as Amber until more evidence is available.Created: 14 May 2021, 1:43 p.m. | Last Modified: 14 May 2021, 1:43 p.m.
Panel Version: 1.41
Zornitza Stark (Australian Genomics)
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: 7 Jan 2021, 8:28 a.m. | Last Modified: 7 Jan 2021, 8:28 a.m.
Panel Version: 1.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
31810472; 23902945; 33095795
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as amber as only one family describedCreated: 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
-
- Expert Review Amber
- Literature
- Expert list
- Phenotypes
-
- premature ovarian failure
- Primary ovarian insufficiency
- Tags
- OMIM
- 607445
- Clinvar variants
- Variants in EIF4ENIF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: EIF4ENIF1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: eif4enif1 has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: EIF4ENIF1 were set to 23902945
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Added New Source
Arianna Tucci (Genomics England Curator)EIF4ENIF1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Literature
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)EIF4ENIF1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)EIF4ENIF1 was created by ellenmcdonagh