1. Panels
  2. Fetal anomalies
  3. NOS3
Genes in panel
Prev Next

Fetal anomalies

Gene: NOS3

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

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

I don't know

Amber on other panels on both UK & aus panelapp. Not yet enough evidence to go green. 37383439 1 monoallelic case - all panel app reviews evidence in low for monoallelic and being assessed for biallelic. 36941667 Two patients with hom variants and functional data. One no prenatal phenotype, 1 IUGR -also has short stature postnatally. Amber
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya disease 8, OMIM:621469; Moyamoya disease 8, MONDO:0980949

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Moyamoya disease 8, OMIM:621469
  • Moyamoya disease 8, MONDO:0980949
OMIM
163729
Clinvar variants
Variants in NOS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: NOS3 was added gene: NOS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NOS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOS3 were set to 37383439; 36941667 Phenotypes for gene: NOS3 were set to Moyamoya disease 8, OMIM:621469; Moyamoya disease 8, MONDO:0980949