| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Infertility and Recurrent Pregnancy Loss v0.44 | NOBOX | Zornitza Stark Marked gene: NOBOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.44 | NOBOX | Zornitza Stark Gene: nobox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.44 | NOBOX | Zornitza Stark Classified gene: NOBOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.44 | NOBOX | Zornitza Stark Gene: nobox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | NOBOX |
Jasmine Chew changed review comment from: Literature in OMIM- PMIM:17701902;21837770;25514101- heterozygous missense and LOF variants reported in affected women with primary ovarian insufficiency, supported by functional evidence New papers (expansion of phenotypes and novel biallelic variants reported in POI patients)- i. PMID: 39871066- A heterozygous missense variant (p.His617Tyr) in two European women with distinct distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype. The same variant has been observed in other two woman experiencing embryonic developmental arrest from the database of Juno Genetics. Given that all affected women have a normal to high ovarian reserve, a typical POI phenotype can be excluded in these cases. ii. PMID: 34480423- novel compound heterozygous truncating variants (p.Arg276Ter and p.Gly474AlafsTer76) in a Belgian patient presenting POI iii. PMID: 29067606- novel homozygous c.1489delT variant in two sisters with POI Sources: Literature; to: Literature in OMIM- PMIM:17701902;21837770;25514101- heterozygous missense and LOF variants reported in affected women with primary ovarian insufficiency, supported by functional evidence New papers (expansion of phenotypes and novel biallelic variants reported in POI patients)- i. PMID: 39871066- A heterozygous missense variant (p.His617Tyr) in two European women with distinct distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype. The same variant has been observed in other two woman experiencing embryonic developmental arrest from the database of Juno Genetics. Given that all affected women have a normal to high ovarian reserve, a typical POI phenotype can be excluded in these cases. ii. PMID: 34480423- Novel compound heterozygous truncating variants (p.Arg276Ter and p.Gly474AlafsTer76) in a Belgian patient presenting POI. iii. PMID: 29067606- a novel homozygous c.1489delT variant in two sisters with POI Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.17 | NOBOX |
Jasmine Chew gene: NOBOX was added gene: NOBOX was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: NOBOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NOBOX were set to 17701902; 21837770; 25514101; 39871066; 34480423; 29067606 Phenotypes for gene: NOBOX were set to Premature ovarian failure 5, MIM# 611548 Review for gene: NOBOX was set to GREEN Added comment: Literature in OMIM- PMIM:17701902;21837770;25514101- heterozygous missense and LOF variants reported in affected women with primary ovarian insufficiency, supported by functional evidence New papers (expansion of phenotypes and novel biallelic variants reported in POI patients)- i. PMID: 39871066- A heterozygous missense variant (p.His617Tyr) in two European women with distinct distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype. The same variant has been observed in other two woman experiencing embryonic developmental arrest from the database of Juno Genetics. Given that all affected women have a normal to high ovarian reserve, a typical POI phenotype can be excluded in these cases. ii. PMID: 34480423- novel compound heterozygous truncating variants (p.Arg276Ter and p.Gly474AlafsTer76) in a Belgian patient presenting POI iii. PMID: 29067606- novel homozygous c.1489delT variant in two sisters with POI Sources: Literature |
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