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| Infertility and Recurrent Pregnancy Loss v1.1 | ELL3 | Zornitza Stark reviewed gene: ELL3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.40 | ELL3 | Zornitza Stark Marked gene: ELL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.40 | ELL3 | Zornitza Stark Gene: ell3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.40 | ELL3 | Zornitza Stark Phenotypes for gene: ELL3 were changed from to Pregnancy loss, recurrent, susceptibility to, MONDO:0000144, ELL3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.39 | ELL3 | Zornitza Stark Classified gene: ELL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.39 | ELL3 | Zornitza Stark Gene: ell3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | ELL3 |
Jasmine Chew gene: ELL3 was added gene: ELL3 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ELL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELL3 were set to 39820605 Review for gene: ELL3 was set to GREEN Added comment: PMID:39820605- 8 different heterozygous variants (5 missense, 3 splicing) in 8 unrelated couples who experienced consecutive early miscarriages due to embryonic aneuploidy. For the three splice variants, mini-gene splicing assays revealed that all led to abnormal splicing, and consequently premature termination of translation or exon skipping, consistent with LOF effect. Findings from functional analysis on human oocytes and knockout mouse oocytes overall supporting that ELL3 depletion increases the incidence of meiotic spindle abnormality and oocyte aneuploidy. Note: couldn't access MONDO # as website down (phenotypes to be updated) Sources: Literature |
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