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| Hypogonadotropic hypogonadism v0.119 | PLXNB1 | Chirag Patel Marked gene: PLXNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.119 | PLXNB1 | Chirag Patel Gene: plxnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.119 | PLXNB1 | Chirag Patel Classified gene: PLXNB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.119 | PLXNB1 | Chirag Patel Gene: plxnb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.118 | PLXNB1 |
Chirag Patel gene: PLXNB1 was added gene: PLXNB1 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: PLXNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLXNB1 were set to 35170806 Phenotypes for gene: PLXNB1 were set to Hypogonadotropic hypogonadism MONDO:0018555 Review for gene: PLXNB1 was set to AMBER Added comment: 6 individuals from 6 unrelated families with 6 different heterozygous missense PLXNB1 variants presenting with normosmic idiopathic hypogonadotropic hypogonadism (delayed puberty, low LH/FSH, normal olfaction). All variants were rare but classified as VUS (p.N361S, p.V608A, p.R636C, p.V672A, p.R1031H, p.C1318R). 3 variants were inherited from an unaffected parent, but parental status could not be clarified for 3 variants could not be clarified. Functional assay of p.R1031H variant showed reduced membrane expression and impaired GnRH‑cell migration, supporting a dominant‑negative mechanism. Sources: Literature |
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