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| Hypogonadotropic hypogonadism v0.87 | NRP1 | Chirag Patel Marked gene: NRP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.87 | NRP1 | Chirag Patel Gene: nrp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.87 | NRP1 |
Chirag Patel gene: NRP1 was added gene: NRP1 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: NRP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRP1 were set to 34636164; 28334861 Phenotypes for gene: NRP1 were set to Hypogonadotropic hypogonadism MONDO:0018555 Review for gene: NRP1 was set to RED Added comment: PMID 28334861 and PMID 34636164 report a total of 13 individuals (8 families, 8 unrelated) with heterozygous missense NRP1 variants presenting with isolated hypogonadotropic hypogonadism / Kallmann syndrome (childhood‑adolescent onset, anosmia, low gonadotropins). Several variants inherited from unaffected parents. No functional assays were performed, but the variants are rare and predicted loss‑of‑function. Variants are classified as VUS. Oligogenic inheritance in some probands with additional IHH‑associated gene variants. Sources: Literature |
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