Stroke
Gene: NOS3
PMID:36941667 analysed six patients from a cohort of 126 consecutive unrelated probands with Moyamoya angiopathy (MMA) of unknown etiology. Two of these six patients were identified with homozygous NOS3 variants, of which one is missense (c.1942T> C, p.(Cys648Arg)) and the other is splice-site variant (c.1502 + 1G > C). Both probands with NOS3 variants suffered from an infant-onset and severe MMA associated with posterior cerebral artery steno-occlusive lesions. There is also some functional evidence available for both variants.
PMID:37383439 reported six patients with Moyamoya disease, of which one patient was identified with monoallelic missense NOS3 variant (c.1684G>A; p.Glu562Lys.
There are two unrelated cases and some functional evidence available for the association of biallelic variants with MMA. However, there is only one case with monoallelic NOS3 variant. The pathogenicity of this monoallelic variant was not explored in detail in the publication.
Hence, the gene should be rated amber and the MOI should be set to BIALLELIC.Created: 25 Apr 2025, 10:15 a.m. | Last Modified: 25 Apr 2025, 10:15 a.m.
Panel Version: 1.2499
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moyamoya disease, MONDO:0016820
Publications
Association studies link polymorphisms in this gene to a variety of common vascular phenotypes, no evidence for Mendelian gene-disease association.Created: 10 Mar 2021, 12:38 a.m. | Last Modified: 10 Mar 2021, 12:38 a.m.
Panel Version: 0.6649
Mode of inheritance
Unknown
Phenotypes
{Hypertension, susceptibility to}, MIM#145500; {Ischemic stroke, susceptibility to}, MIM# 601367; {Hypertension, pregnancy-induced}, MIM# 189800
Publications
GWAS studies and polymorphism association studies only with conflicting results. No Mendelian cases/families to date.Created: 10 Mar 2021, 12:20 a.m. | Last Modified: 10 Mar 2021, 12:20 a.m.
Panel Version: 0.61
Mode of inheritance
Unknown
Publications
Reported as a susceptibility loci in OMIM. The variant reported (E298D) is too common in gnomAD. Does not appear to be related to Mendelian disease.Created: 29 Apr 2020, 9:25 a.m. | Last Modified: 29 Apr 2020, 9:25 a.m.
Panel Version: 0.3
Mode of inheritance
Unknown
Phenotypes
{Ischemic stroke, susceptibility to} MIM#601367
Gene: nos3 has been classified as Red List (Low Evidence).
Phenotypes for gene: NOS3 were changed from to {Ischemic stroke, susceptibility to} MIM#601367
Publications for gene: NOS3 were set to
Gene: nos3 has been classified as Red List (Low Evidence).
gene: NOS3 was added gene: NOS3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NOS3 was set to Unknown