Structural eye disease

Gene: NR6A1

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.

Created: 18 Jul 2025, 12:31 p.m. | Last Modified: 18 Jul 2025, 12:31 p.m.

Panel Version: 4.16

As reviewed by Siying Lin, PMID:40610405 reported six unrelated families with heterozygous rare variants (missense, nonsense, frameshift, or large deletion) in NR6A1 gene presenting with an autosomal dominant oculo-vertebral-renal (OVR) syndrome characterised by colobomatous microphthalmia, missing vertebrae and congenital kidney abnormalities. The variants showed incomplete penetrance and variable expressivity. Functional evidence from in silico, cellular, and zebrafish experiments showed that reported variants were either pathogenic or likely pathogenic for OVR syndrome.

This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen.

Created: 18 Jul 2025, 12:27 p.m. | Last Modified: 18 Jul 2025, 12:27 p.m.

Panel Version: 4.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coloboma, MONDO:0001476; microphthalmia, MONDO:0021129

Publications

• 40610405

Green List (high evidence)

PMID 40610405: 6 unrelated families with autosomal dominant syndromic form of colobomatous microphthalmia and missing vertebrae with or without congenital kidney abnormalities
Sources: Literature

Created: 4 Jul 2025, 6:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
microphthalmia, coloboma

Publications

• PMID: 40610405

Mode of pathogenicity
Other