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| Infertility and Recurrent Pregnancy Loss v0.99 | H6PD | Zornitza Stark Marked gene: H6PD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.99 | H6PD | Zornitza Stark Gene: h6pd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.99 | H6PD | Zornitza Stark Classified gene: H6PD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.99 | H6PD | Zornitza Stark Gene: h6pd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | H6PD |
Jasmine Chew commented on gene: H6PD: Literature in OMIM: PMID: 12858176, 18628520, 18628520 - Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. PMID: 36385415- Reported a case with RPL (C22), carrying heterozygous frameshift p.Ser391AlafsTer102 called pathogenic, absent from Clinvar |
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| Infertility and Recurrent Pregnancy Loss v0.82 | H6PD | Jasmine Chew Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.82 | H6PD |
Jasmine Chew gene: H6PD was added gene: H6PD was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: H6PD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: H6PD were set to 12858176; 18628520; 18628520; 36385415 Phenotypes for gene: H6PD were set to Cortisone reductase deficiency 1, MIM# 604931 Review for gene: H6PD was set to GREEN Added comment: Literature in OMIM: PMID: 12858176, 18628520, 18628520 - Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. PMID: 36385415- Reported a case with RPL (C22), carrying heterozygous frameshift p.Ser391AlafsTer102 called pathogenic, absent from Clinvar Sources: Literature |
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