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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 |