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Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Possible.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Hypogonadotropic hypogonadism 9 with or without anosmia 614838
OMIM
608137
Clinvar variants
Variants in NSMF
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: NSMF was added gene: NSMF was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838