Structural eye disease
Gene: GNAT1

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary, autosomal dominant 3; ?Night blindness, congenital stationary, type 1G; 610444; 616389

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary, autosomal dominant 3, 610444; ?Night blindness, congenital stationary, type 1G, 616389

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

?Night blindness, congenital stationary, type 1G, 616389
Night blindness, congenital stationary, autosomal dominant 3, 610444
Eye Disorders

OMIM

139330

Clinvar variants

Variants in GNAT1

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GNAT1. Mode of inheritance for gene GNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Night blindness, congenital stationary, type 1G, 616389; Night blindness, congenital stationary, autosomal dominant 3, 610444 for gene: GNAT1

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GNAT1 was added gene: GNAT1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GNAT1 was set to Phenotypes for gene: GNAT1 were set to Eye Disorders

Structural eye disease Gene: GNAT1