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Primary immunodeficiency

Gene: NOS2

Red List (low evidence)

NOS2 (nitric oxide synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000007171
EnsemblGeneIds (GRCh37): ENSG00000007171
OMIM: 163730, Gene2Phenotype
NOS2 is in 3 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Gene was added to panel by Zornitza Stark (Australian Genomics). The gene was given the suggested Red rating based on evidence provided by expert reviewer.

PMID: 31995689 describes a 51 year old man from Iran who had an acute cytomegalovirus (CMV) infection which progressed to CMV disease and later died from it. The researchers found a homozygous variant that causes a frameshift mutation in NOS2 that caused NOS2 deficiency, which might cause the patient to be more susceptible to lethal CMV infection. The patient was otherwise healthy until the CMV infection.
Created: 5 May 2020, 10:23 a.m. | Last Modified: 5 May 2020, 10:23 a.m.
Panel Version: 2.145

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Promoter polymorphisms linked to malarial resistance. Single individual reported with homozygous NOS2 LOF variant and disseminated, progressive CMV disease.
Sources: Literature
Created: 1 May 2020, 12:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Malaria, resistance to} 611162; Disseminated CMV disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • {Malaria, resistance to} 611162
  • Disseminated CMV disease
OMIM
163730
Clinvar variants
Variants in NOS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nos2 has been classified as Red List (Low Evidence).

5 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NOS2 were set to 12433515; 31995689

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NOS2 was added gene: NOS2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOS2 were set to 12433515; 31995689 Phenotypes for gene: NOS2 were set to {Malaria, resistance to} 611162; Disseminated CMV disease Review for gene: NOS2 was set to RED