Hypogonadotropic hypogonadism (GMS)
Gene: NSMFComment on mode of inheritance: Updated from biallelic to monoallelic as only heterozygous variants in this gene have been reported in association with IHH, even though this is only partially explains the phenotype due to possible oligogenic variants in other genes such as FGFR1 and HS6ST1.Created: 30 Nov 2023, 12:04 p.m. | Last Modified: 30 Nov 2023, 12:04 p.m.
Panel Version: 3.14
Comment on list classification: Demoted from Amber to Red as per my previous comment.Created: 24 Mar 2021, 4:01 p.m. | Last Modified: 24 Mar 2021, 4:01 p.m.
Panel Version: 1.24
This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID:27803842 describes a murine Nsmf knockout model that shows that Nsmf does not have a role in the migration of GnRH-positive neurons during early development.
Given the available evidence, this gene should be demoted to Red status.Created: 24 Mar 2021, 4:01 p.m. | Last Modified: 24 Mar 2021, 4:01 p.m.
Panel Version: 1.22
Publications
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).Created: 18 Jul 2020, 10:23 a.m. | Last Modified: 18 Jul 2020, 10:23 a.m.
Panel Version: 1.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Publications
Complicated by oligogenic inheritanceCreated: 22 Mar 2019, 5:03 p.m.
Mode of inheritance for gene: NSMF was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: nsmf has been classified as Red List (Low Evidence).
Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Publications for gene: NSMF were set to
Gene: nsmf has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to NSMF.
Added phenotypes Hypogonadotropic hypogonadism type 9 (OMIM 614838) for gene: NSMF
gene: NSMF was added gene: NSMF was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: NSMF was set to BIALLELIC, autosomal or pseudoautosomal