Retinal disordersGene: NEUROD1
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
Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes
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
Tag for-review was removed from gene: NEUROD1.
Source Expert Review Green was added to NEUROD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: NEUROD1.
Mode of inheritance for gene: NEUROD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEUROD1 were changed from to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes
Publications for gene: NEUROD1 were set to
gene: NEUROD1 was added gene: NEUROD1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: NEUROD1 was set to