Congenital nystagmus

Gene: GNB3

Red List (low evidence)

GNB3 (G protein subunit beta 3)
EnsemblGeneIds (GRCh38): ENSG00000111664
EnsemblGeneIds (GRCh37): ENSG00000111664
OMIM: 139130, Gene2Phenotype
GNB3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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