Retinal disordersGene: GNB3
Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.
Created: 11 Oct 2020, 3:15 a.m. | Last Modified: 11 Oct 2020, 3:15 a.m.
Panel Version: 2.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Night blindness, congenital stationary, type 1H, MIM# 617024
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 associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be given Green status at the next review.
Created: 6 Jan 2021, 4:10 p.m. | Last Modified: 6 Jan 2021, 4:10 p.m.
Panel Version: 2.67
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: GNB3.
Source Expert Review Green was added to GNB3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: GNB3.
Mode of inheritance for gene: GNB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB3 were set to
Phenotypes for gene: GNB3 were changed from to Night blindness, congenital stationary, type 1H, OMIM:617024, MONDO:0014872
gene: GNB3 was added gene: GNB3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: GNB3 was set to