Hypogonadotropic hypogonadism idiopathic

Gene: NSMF

Red List (low evidence)

NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor)
EnsemblGeneIds (GRCh38): ENSG00000165802
EnsemblGeneIds (GRCh37): ENSG00000165802
OMIM: 608137, Gene2Phenotype
NSMF is in 3 panels

4 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Complicated by oligogenic inheritance
Created: 22 Mar 2019, 5:03 p.m.

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
OMIM
608137
Clinvar variants
Variants in NSMF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nsmf has been classified as Red List (Low Evidence).

24 Mar 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NSMF were set to 15362570; 17235395; 21700882

24 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism type 9 (OMIM 614838) to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838

24 Mar 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NSMF were set to

22 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nsmf has been classified as Amber List (Moderate Evidence).

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to NSMF.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Hypogonadotropic hypogonadism type 9 (OMIM 614838) for gene: NSMF

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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