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| Infertility and Recurrent Pregnancy Loss v0.226 | MTHFR | Zornitza Stark Marked gene: MTHFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.226 | MTHFR | Zornitza Stark Gene: mthfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.226 | MTHFR | Zornitza Stark Phenotypes for gene: MTHFR were changed from Recurrent pregnancy loss susceptibility to Homocystinuria due to MTHFR deficiency MIM#236250; Recurrent pregnancy loss susceptibility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.225 | MTHFR | Zornitza Stark Classified gene: MTHFR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.225 | MTHFR | Zornitza Stark Gene: mthfr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | MTHFR |
Jasmine Chew gene: MTHFR was added gene: MTHFR was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: MTHFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTHFR were set to 37260775; 39534907; 38322638 Phenotypes for gene: MTHFR were set to Recurrent pregnancy loss susceptibility Review for gene: MTHFR was set to AMBER Added comment: PMID: 37260775- RPL5 couple was found to be carriers for mutation in the MTHFR gene. It is already known that women with a MTHFR variant have a higher risk for pregnancy-related issues such as miscarriages, preeclampsia, or a baby born with birth defects, such as spina bifida. The theory behind the connection between the MTHFR mutation and pregnancy loss is that tiny blood clots are formed because of homocysteinemia, which blocks the flow of nutrition to the placenta, essentially starving the fetus and triggering a spontaneous abortion (Dell’dera et al., 2018- PMID: 29435277). ii) PMID: 39534907- The MTHFR C677T variant showed strong associations with unexplained RPL, particularly the CT genotype (OR: 6.07, 95% CI: 3.00-12.93; p < 0.001) and TT genotype (OR: 14.62, 95% CI: 2.85-114.77; p = 0.003) in Vietnamese population. iii) PMID: 38322638- 6.2% of couples with a history of RPL had MTHFR C677T in an Iranian population Note: MTHFR is a thrombophilic marker and DNA methylation- PMID: 34745108). Sources: Literature |
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