Retinal disorders

Gene: NEUROD1

Green List (high evidence)

Mono-allelic variants in this gene are associated with MODY.

Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, but RP/retinopathy reported in three unrelated individuals. Functional data supports gene's role in retina.

Created: 12 Oct 2020, 2:17 a.m. | Last Modified: 12 Oct 2020, 2:17 a.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes

Publications

• 25477324
• 25684977
• 22784109
• 29521454

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

This gene is not associated with an eye phenotype in OMIM and with no phenotype in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.

Created: 22 Jan 2021, 1:09 p.m. | Last Modified: 22 Jan 2021, 1:09 p.m.

Panel Version: 2.124

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.

Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5