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| Hypogonadotropic hypogonadism v0.77 | NSMF | Zornitza Stark Marked gene: NSMF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.77 | NSMF | Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.77 | NSMF | Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.76 | NSMF | Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.59 | Chirag Patel Copied gene NSMF from panel Differences of Sex Development | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypogonadotropic hypogonadism v0.59 | NSMF |
Chirag Patel gene: NSMF was added gene: NSMF was added to Hypogonadotropic hypogonadism. Sources: Expert Review Red,Expert list Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NSMF were set to 15362570; 17235395; 21700882 Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 |
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