Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: NOS2Comment 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
Promoter polymorphisms linked to malarial resistance. Single individual reported with homozygous NOS2 LOF variant and disseminated, progressive CMV disease.
Sources: LiteratureCreated: 1 May 2020, 12:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Malaria, resistance to} 611162; Disseminated CMV disease
Publications
Gene: nos2 has been classified as Red List (Low Evidence).
Publications for gene: NOS2 were set to 12433515; 31995689
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