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| Infertility and Recurrent Pregnancy Loss v0.63 | TLE6 |
Jasmine Chew changed review comment from: i) Literature in OMIM (PMID:26537248)- 3 women from 2 consanguineous Saudi families with primary infertility due to preimplantation embryonic lethality carrying homozygous missense variant, S510Y. ). Functional analysis demonstrated that the variant abrogates TLE6 phosphorylation by PKA and also impairs TLE6 binding to components of the SCMC. ii) New papers: - PMID: 31897846- novel biallelic variants (2 homozygous, 1 compound heterozygous) in 3 patients with recurrent IVF/ICSI failure. - PMID: 40225929- novel compound heterozygous (c.541+2dupT in intron 7 and c.1075G>A) in a female with embryonic developmental arrest (EDA). The splice variant resulted in aberrant RNA splicing, leading to abnormal truncations of the corresponding proteins. In vitro experiments further validated that the missense variant in NLRP5 led to increased mRNA and protein expression levels compared to wild type, when transfected into HEK293T cells. - PMID: 32172300- A homozygous truncating variant p.(Lys146Glufs*51) in a patient with recurrent pregnancy loss, and demonstrates that oocytes depleted for TLE6 have the capacity to undergo several postfertilization divisions prior to arrest, consistent with what was observed in Tle6-/- mice (Yu et al. 2014) iii) Classified as definitive for OZEMA in FeRGI database Sources: Literature; to: i) Literature in OMIM (PMID:26537248)- 3 women from 2 consanguineous Saudi families with primary infertility due to preimplantation embryonic lethality carrying homozygous missense variant, S510Y). Functional analysis demonstrated that the variant abrogates TLE6 phosphorylation by PKA and also impairs TLE6 binding to components of the SCMC. ii) New papers: - PMID: 31897846- novel biallelic variants (2 homozygous, 1 compound heterozygous) in 3 patients with recurrent IVF/ICSI failure. - PMID: 40225929- novel compound heterozygous (c.541+2dupT in intron 7 and c.1075G>A) in a female with embryonic developmental arrest (EDA). The splice variant resulted in aberrant RNA splicing, leading to abnormal truncations of the corresponding proteins. In vitro experiments further validated that the missense variant in NLRP5 led to increased mRNA and protein expression levels compared to wild type, when transfected into HEK293T cells. - PMID: 32172300- A homozygous truncating variant p.(Lys146Glufs*51) in a patient with recurrent pregnancy loss, and demonstrates that oocytes depleted for TLE6 have the capacity to undergo several postfertilization divisions prior to arrest, consistent with what was observed in Tle6-/- mice (Yu et al. 2014). iii) Classified as definitive for OZEMA in FeRGI database Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.63 | TLE6 |
Jasmine Chew gene: TLE6 was added gene: TLE6 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: TLE6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TLE6 were set to 26537248; 31897846; 40225929; 32172300 Phenotypes for gene: TLE6 were set to Oocyte/zygote/embryo maturation arrest 15, #MIM 616814 Review for gene: TLE6 was set to GREEN Added comment: i) Literature in OMIM (PMID:26537248)- 3 women from 2 consanguineous Saudi families with primary infertility due to preimplantation embryonic lethality carrying homozygous missense variant, S510Y. ). Functional analysis demonstrated that the variant abrogates TLE6 phosphorylation by PKA and also impairs TLE6 binding to components of the SCMC. ii) New papers: - PMID: 31897846- novel biallelic variants (2 homozygous, 1 compound heterozygous) in 3 patients with recurrent IVF/ICSI failure. - PMID: 40225929- novel compound heterozygous (c.541+2dupT in intron 7 and c.1075G>A) in a female with embryonic developmental arrest (EDA). The splice variant resulted in aberrant RNA splicing, leading to abnormal truncations of the corresponding proteins. In vitro experiments further validated that the missense variant in NLRP5 led to increased mRNA and protein expression levels compared to wild type, when transfected into HEK293T cells. - PMID: 32172300- A homozygous truncating variant p.(Lys146Glufs*51) in a patient with recurrent pregnancy loss, and demonstrates that oocytes depleted for TLE6 have the capacity to undergo several postfertilization divisions prior to arrest, consistent with what was observed in Tle6-/- mice (Yu et al. 2014) iii) Classified as definitive for OZEMA in FeRGI database Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.29 | NLRP5 | Zornitza Stark Marked gene: NLRP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | NLRP5 | Zornitza Stark Gene: nlrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | NLRP5 | Zornitza Stark Classified gene: NLRP5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.29 | NLRP5 | Zornitza Stark Gene: nlrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.12 | NLRP5 |
Jasmine Chew gene: NLRP5 was added gene: NLRP5 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: NLRP5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NLRP5 were set to 30877238; 32222962; 35091966; 35946397; 33583041 Phenotypes for gene: NLRP5 were set to Oocyte/zygote/embryo maturation arrest 19, MIM# 620333 Review for gene: NLRP5 was set to GREEN Added comment: Literature in OMIM- PMID: 30877238, 32222962, 35091966, 35946397 New evidence: i) PMID: 33583041- homozygous missense variant (p.Asp365Asn) in an Iranian woman with 2 years of infertility, IUI-twin (HM + fetus), and two complete hydatidiform mole Sources: Literature |
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