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| Mendeliome v1.1274 | EIF4ENIF1 | Zornitza Stark Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5638 | EIF4ENIF1 | Bryony Thompson Marked gene: EIF4ENIF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5638 | EIF4ENIF1 | Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5637 | EIF4ENIF1 | Bryony Thompson Classified gene: EIF4ENIF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5637 | EIF4ENIF1 | Bryony Thompson Gene: eif4enif1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5636 | EIF4ENIF1 |
Bryony Thompson gene: EIF4ENIF1 was added gene: EIF4ENIF1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EIF4ENIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF4ENIF1 were set to 31810472; 23902945; 33095795 Phenotypes for gene: EIF4ENIF1 were set to Primary ovarian insufficiency Review for gene: EIF4ENIF1 was set to AMBER Added comment: 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. Sources: Literature |
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