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| Infertility and Recurrent Pregnancy Loss v0.177 | RNF212B | Zornitza Stark Marked gene: RNF212B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.177 | RNF212B | Zornitza Stark Gene: rnf212b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.177 | RNF212B | Zornitza Stark Phenotypes for gene: RNF212B were changed from Female and male infertility with recurrent medically assisted reproduction (MAR) failures. to Infertility disorder, MONDO:0005047, RNF212B-related; Female and male infertility with recurrent medically assisted reproduction (MAR) failures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.176 | RNF212B | Zornitza Stark Classified gene: RNF212B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.176 | RNF212B | Zornitza Stark Gene: rnf212b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.63 | RNF212B | Jasmine Chew edited their review of gene: RNF212B: Changed phenotypes: Female and male infertility with recurrent medically assisted reproduction (MAR) failures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.63 | RNF212B |
Jasmine Chew gene: RNF212B was added gene: RNF212B was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: RNF212B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF212B were set to 40259604; 37124137 Phenotypes for gene: RNF212B were set to Female and male infertility with recurrent medically assisted reproduction (MAR) failures. Review for gene: RNF212B was set to AMBER Added comment: Based on available evidence so far, it seems to be affecting Ashkenazi Jewish population specifically: i) PMID: 40259604- homozygous stop gained variant p.Arg150Ter in a young Ashkenazi Jewish female with a history of RPL underwent five in vitro fertilization cycles with nearly complete arrest of blastocyst development and ubiquitous aneuploidy of maternal origin in arrested embryos. ii) PMID: 37124137- homozygous nonsense variant R150X in two brothers of Turkish Jewish descent and one unrelated Ashkenazi Jewish male with oligoasthenotheratozoospermia and infertility who had undergone numerous fertility treatments and failed IVF cycles. Single-cell RNA sequencing data analysis demonstrated expression of the pathogenic variant during various steps of spermatogenesis and consequent severe genomic instability in their sperm and embryos. Sources: Literature |
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