Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: 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 to support gene's role in retina.Created: 12 Oct 2020, 2:16 a.m. | Last Modified: 12 Oct 2020, 2:17 a.m.
Panel Version: 0.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes
Publications
Gene: neurod1 has been classified as Green List (High Evidence).
Phenotypes for gene: NEUROD1 were changed from ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy to Retinitis pigmentosa; Retinopathy; Permanent neonatal diabetes
gene: NEUROD1 was added gene: NEUROD1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 25477324; 29521454; 25684977 Phenotypes for gene: NEUROD1 were set to ?retinitis pigmentosa; neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy