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| Hypogonadotropic hypogonadism v0.86 | NRP2 | Chirag Patel Marked gene: NRP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.86 | NRP2 | Chirag Patel Gene: nrp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.86 | NRP2 | Chirag Patel reviewed gene: NRP2: Rating: RED; Mode of pathogenicity: None; Publications: 34636164, 28334861; Phenotypes: Hypogonadotropic hypogonadism MONDO:0018555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.86 | NRP2 | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.86 | NRP2 |
Chirag Patel gene: NRP2 was added gene: NRP2 was added to Hypogonadotropic hypogonadism. Sources: Literature Mode of inheritance for gene: NRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NRP2 were set to 34636164; 28334861 Phenotypes for gene: NRP2 were set to Hypogonadotropic hypogonadism, MONDO:0018555 Review for gene: NRP2 was set to GREEN Added comment: PMID 28334861 reports four individuals with heterozygous NRP2 missense variants presenting with Kallmann syndrome (congenital hypogonadotropic hypogonadism with anosmia). PMID 34636164 reports two unrelated families with heterozygous NRP2 missense variants causing isolated normosmic hypogonadotropic hypogonadism. No functional validation or segregation data were provided for any variant. Variants are too common in population and/or classified as VUS/benign. Sources: Literature |
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