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| Hypogonadotropic hypogonadism v0.121 | POU6F2 |
Chirag Patel gene: POU6F2 was added gene: POU6F2 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: POU6F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POU6F2 were set to 37600690 Phenotypes for gene: POU6F2 were set to Hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: POU6F2 was set to AMBER Added comment: PMID 37600690 reports 15 individuals from 12 unrelated families with idiopathic hypogonadotropic hypogonadism (IHH). Twelve rare missense variants in functional POU domains were identified. Inheritance includes autosomal recessive (Family‑A homozygous, p.Gly601Arg variant), autosomal dominant with variable penetrance, and a de novo case (Family‑I). All variants were classified as VUS. Functional assays in a human GnRH cell line showed the p.Gly601Arg variant abolished repression of GNRH1, supporting loss‑of‑function as the disease mechanism. The p.Asn629His variant (2 families) was common the Turkish population and had no effect on functional assays. Sources: Literature |
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| Hypogonadotropic hypogonadism v0.98 | GNRH1 | Chirag Patel Marked gene: GNRH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.98 | GNRH1 | Chirag Patel Gene: gnrh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.17 | Chirag Patel Copied gene GNRH1 from panel Differences of Sex Development | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.17 | GNRH1 |
Chirag Patel gene: GNRH1 was added gene: GNRH1 was added to Hypogonadotropic hypogonadism. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNRH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNRH1 were set to 19535795; 19567835; 32134721; 31200363; 26595427 Phenotypes for gene: GNRH1 were set to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841 |
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