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| Infertility and Recurrent Pregnancy Loss v0.224 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.224 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.224 | LMNA | Zornitza Stark Phenotypes for gene: LMNA were changed from Female infertility, premature ovarian insufficiency to Laminopathy; Female infertility, premature ovarian insufficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.223 | LMNA | Zornitza Stark Classified gene: LMNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.223 | LMNA | Zornitza Stark Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | LMNA |
Jasmine Chew gene: LMNA was added gene: LMNA was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to 18364375; 19283854; 39595984 Phenotypes for gene: LMNA were set to Female infertility, premature ovarian insufficiency Review for gene: LMNA was set to GREEN Added comment: Variants reported associated with female infertility and POI: i) PMID: 18364375- seven families with 14 affected patients exhibiting heterozygous LMNA variants (five R482W, one R482Q, one R439C) and 7 percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 4 suffered from infertility, and 7 experienced at least one miscarriage, also quoted that "The prevalence of PCOS, infertility, miscarriages, gestational diabetes, and/or macrosomia and eclampsia or fetal death was much higher in LMNA-mutated women than in the general population (20–27)" ii) PMID: 19283854- novel heterozygous missense pLeu59Arg in two unrelated patients with cardinal features of Malouf syndrome, that is, dilated cardiomyopathy and premature ovarian failure iii) PMID: 39595984- Six different P/LP heterozygous variants in six unrelated patients with apparently isolated diminished ovarian reserve. Sources: Literature |
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