Congenital Stationary Night Blindness

Gene: GNB3

Green List (high 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)

Green List (high 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.
Created: 11 Oct 2020, 3:13 a.m. | Last Modified: 11 Oct 2020, 3:13 a.m.
Panel Version: 0.4

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 Green
  • 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

11 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNB3 were changed from Night blindness, congenital stationary, type 1h to Night blindness, congenital stationary, type 1H, MIM# 617024

11 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnb3 has been classified as Green List (High Evidence).

11 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNB3 were set to

24 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GNB3 was added gene: GNB3 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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