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Stroke

Gene: NOS3

Red List (low evidence)
NOS3 (nitric oxide synthase 3)
EnsemblGeneIds (GRCh38): ENSG00000164867
EnsemblGeneIds (GRCh37): ENSG00000164867
OMIM: 163729, Gene2Phenotype
NOS3 is in 2 panels

2 reviews

Natasha Brown (Victorian Clinical Genetics Services)

Red List (low evidence)

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

Created: 10 Mar 2021, 12:20 a.m.
Last Modified: 10 Mar 2021, 12:20 a.m.
Panel version: 0.61

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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

Created: 29 Apr 2020, 9:25 a.m.
Last Modified: 29 Apr 2020, 9:25 a.m.
Panel version: 0.3

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • {Ischemic stroke, susceptibility to} MIM#601367
OMIM
163729
Clinvar variants
Variants in NOS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nos3 has been classified as Red List (Low Evidence).

10 Mar 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NOS3 were changed from to {Ischemic stroke, susceptibility to} MIM#601367

10 Mar 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NOS3 were set to

29 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nos3 has been classified as Red List (Low Evidence).

22 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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