| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypogonadotropic hypogonadism v0.122 | POU6F2 | Chirag Patel Marked gene: POU6F2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.122 | POU6F2 | Chirag Patel Gene: pou6f2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.122 | POU6F2 | Chirag Patel Classified gene: POU6F2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.122 | POU6F2 | Chirag Patel Gene: pou6f2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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