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| Infertility and Recurrent Pregnancy Loss v0.198 | NOTCH2 | Zornitza Stark Classified gene: NOTCH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.198 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.197 | NOTCH2 | Zornitza Stark Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.197 | NOTCH2 | Zornitza Stark Gene: notch2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.197 | NOTCH2 | Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Primary ovarian insufficiency to Inherited primary ovarian failure, MONDO:0019852, NOTCH2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | NOTCH2 |
Jasmine Chew gene: NOTCH2 was added gene: NOTCH2 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 32312275; 30304577; 28505269; 28283672 Phenotypes for gene: NOTCH2 were set to Primary ovarian insufficiency Review for gene: NOTCH2 was set to GREEN Added comment: i) PMID: 32312275 -Heterozygous missense variant p.Asp1853His in both mother an daughter with POI. Cells expressing the D1853H NOTCH2 mutant had similar effect in activating the NOTCH signaling pathway downstream target genes. 106 protein-coding genes enriched for collagen degradation, NCAM1 interactions and HDACs deacetylate histones were differentially expressed between D1853H expressing cells and WT NOTCH2 expressing cells. ii) PMID: 30304577, 28505269 - 4 unrelated women with POI with heterozygous missense variants (p.Ser1804Leu, p.Gln1811His, p.Leu2408His, p.Pro2359Ala) and 1 woman with POI suspected biallelic (p.Ala2316Val & p.Leu2408His). NOTCH2-p.Ser1804Leu, p.Ala2316Val, and p.Pro2359Ala mutations had a functional impact on the protein's transcriptional activity. Suggested that POI is associated with loss of function of NOTCH2. Sources: Literature |
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