Congenital Stationary Night Blindness
Gene: GNB3EnsemblGeneIds (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.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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnb3 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GNB3 were set to
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