Congenital nystagmus
Gene: 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.
However, patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia.Created: 11 Oct 2020, 3:13 a.m. | Last Modified: 25 Oct 2021, 3:47 a.m.
Panel Version: 0.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary, type 1H, MIM# 617024
Publications
Gene: gnb3 has been classified as Red List (Low Evidence).
Publications for gene: GNB3 were set to
Gene: gnb3 has been classified as Red List (Low Evidence).
gene: GNB3 was added gene: GNB3 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB3 were set to Night blindness, congenital stationary, type 1H, MIM# 617024