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Fetal anomalies

Gene: NR6A1

Green List (high evidence)
NR6A1 (nuclear receptor subfamily 6 group A member 1)
EnsemblGeneIds (GRCh38): ENSG00000148200
EnsemblGeneIds (GRCh37): ENSG00000148200
OMIM: 602778, Gene2Phenotype
NR6A1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Amber on structural eye diease panel. PMID: 40610405 6 variants 6 unrelated families (3 LOF, 3 missense) & mouse & zevbrafish studes as well. Incomplete penetrance and variable expressivity in families. Colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities. 12 probands, renal in 2, verebrae in all. ? detectable. ? green with eye and kidney but incomplete pentrance an issue? Should go green on eye panel first?
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculovertebral syndrome, OMIM:621277

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Oculovertebral syndrome, OMIM:621277
OMIM
602778
Clinvar variants
Variants in NR6A1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Oculovertebral syndrome, OMIM:621277 for gene: NR6A1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: NR6A1 was added gene: NR6A1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted