Differences of Sex Development
Gene: NSMF

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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).
Sources: Expert list
Created: 18 Jul 2020, 10:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838

Publications

Created: 18 Jul 2020, 10:17 a.m.

Panel version: 0.157

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list

Phenotypes

Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838

OMIM

608137

Clinvar variants

Variants in NSMF

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes