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| Infertility and Recurrent Pregnancy Loss v0.96 | HSD17B4 | Zornitza Stark Marked gene: HSD17B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.96 | HSD17B4 | Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.96 | HSD17B4 | Zornitza Stark Classified gene: HSD17B4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.96 | HSD17B4 | Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | HSD17B4 |
Jasmine Chew changed review comment from: Characterized by ovarian dysgenesis in females - Literature in OMIM: PubMed: 20673864 New paper reported ovarian dysgenesis phenotype i) PMID: 28830375- novel homozygous variant p.A100S in two female siblings Sources: Literature; to: Characterized by ovarian dysgenesis in females - Literature in OMIM: PubMed: 20673864 New paper reported ovarian dysgenesis phenotype i) PMID: 28830375- novel homozygous variant p.A100S in two female siblings Documented in FeRGI database- moderate evidence for POI. Sources: Literature |
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| Infertility and Recurrent Pregnancy Loss v0.82 | HSD17B4 |
Jasmine Chew gene: HSD17B4 was added gene: HSD17B4 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD17B4 were set to 20673864; 28830375 Phenotypes for gene: HSD17B4 were set to Perrault syndrome 1, #MIM 233400 Review for gene: HSD17B4 was set to GREEN Added comment: Characterized by ovarian dysgenesis in females - Literature in OMIM: PubMed: 20673864 New paper reported ovarian dysgenesis phenotype i) PMID: 28830375- novel homozygous variant p.A100S in two female siblings Sources: Literature |
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