Congenital Stationary Night Blindness
Gene: GNAT1

GNAT1 (G protein subunit alpha transducin 1)
EnsemblGeneIds (GRCh38): ENSG00000114349
EnsemblGeneIds (GRCh37): ENSG00000114349
OMIM: 139330, Gene2Phenotype
GNAT1 is in 3 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Both modes of inheritance have been classified as Definitive by Retina ClinGen GCEP on 07/11/2024.

AR - https://search.clinicalgenome.org/CCID:008520
AD - https://search.clinicalgenome.org/CCID:008519

Mechanism of disease is likely to be the difference between MOI however more evidence is required to identified the AD mechanism of disease. AR is biallelic loss of function.
Created: 17 Dec 2024, 1:35 a.m. | Last Modified: 17 Dec 2024, 1:35 a.m.

Panel Version: 0.23

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
inherited retinal dystrophy MONDO:0019118

Created: 17 Dec 2024, 1:35 a.m.
Last Modified: 17 Dec 2024, 1:35 a.m.
Panel version: 0.23

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Night blindness, congenital stationary, autosomal dominant 3, 610444

OMIM

139330

Clinvar variants

Variants in GNAT1

Penetrance

None

Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNAT1 was added gene: GNAT1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444

Congenital Stationary Night Blindness Gene: GNAT1