| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Differences of Sex Development v1.30 | NSMF | Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.29 | NSMF | Zornitza Stark edited their review of gene: NSMF: Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v1.29 | 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 phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.157 | NSMF | Zornitza Stark Marked gene: NSMF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.157 | NSMF | Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.157 | NSMF |
Zornitza Stark gene: NSMF was added gene: NSMF was added to Disorders of Sex Differentiation. Sources: 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 Review for gene: NSMF was set to RED Added comment: Rare variants reported in individuals with IHH; however, variants in other IHH genes also present, and at least one of the variants has a very high population frequency in gnomad (intronic 8-bp deletion ending 14 bp before exon 10 (1159-14_-22del), present in 258 individuals). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||