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| Infertility and Recurrent Pregnancy Loss v0.182 | WT1 | Zornitza Stark Marked gene: WT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.182 | WT1 | Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.182 | WT1 | Zornitza Stark Phenotypes for gene: WT1 were changed from Primary ovarian failure, MONDO:0005387 to Primary ovarian failure, MONDO:0005387, WT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.181 | WT1 | Zornitza Stark Classified gene: WT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.181 | WT1 | Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.63 | WT1 |
Jasmine Chew gene: WT1 was added gene: WT1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WT1 were set to 26358501; 34845858 Phenotypes for gene: WT1 were set to Primary ovarian failure, MONDO:0005387 Review for gene: WT1 was set to GREEN Added comment: New papers reported variants associated with POI: i) PMID: 26358501- Two novel heterozygous missense variants (p. Pro126Ser in exon1 and p. Arg370His in exon7) in two unrelated POI patients, and functional study on these two missense variants showed in impaired transcription of downstream genes, including AMH, FSHR, CYP19 and CDH. ii) PMID: 34845858- A de novo heterozygous nonsense variant p.R463* in a non-syndromic POI woman. Western blot analysis further demonstrated that the WT1 variant could produce a truncated WT1 isoform in vitro. Sources: Literature |
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