Primary ovarian insufficiency
Gene: EIF4ENIF1Comment 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
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
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
Tag watchlist tag was added to gene: EIF4ENIF1.
Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).
Gene: eif4enif1 has been classified as Green List (High Evidence).
Publications for gene: EIF4ENIF1 were set to 23902945
Promoting to Version 1 on 31-05-2017, after internal curation and review.
EIF4ENIF1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Literature
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
EIF4ENIF1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
EIF4ENIF1 was created by ellenmcdonagh