Congenital nystagmus
Gene: GNB3
GNB3 (G protein subunit beta 3)
EnsemblGeneIds (GRCh38): ENSG00000111664
EnsemblGeneIds (GRCh37): ENSG00000111664
OMIM: 139130, Gene2Phenotype
GNB3 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000111664
EnsemblGeneIds (GRCh37): ENSG00000111664
OMIM: 139130, Gene2Phenotype
GNB3 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Night blindness, congenital stationary, type 1H, MIM# 617024
- OMIM
- 139130
- Clinvar variants
- Variants in GNB3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
25 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnb3 has been classified as Red List (Low Evidence).
25 Oct 2021, Gel status: 1
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GNB3 were set to
25 Oct 2021, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnb3 has been classified as Red List (Low Evidence).
6 Oct 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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