Structural eye disease
Gene: GNAT2

GNAT2 (G protein subunit alpha transducin 2)
EnsemblGeneIds (GRCh38): ENSG00000134183
EnsemblGeneIds (GRCh37): ENSG00000134183
OMIM: 139340, Gene2Phenotype
GNAT2 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
Achromatopsia-4; 613856

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
Achromatopsia-4,613856

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

Achromatopsia-4,613856
Eye Disorders

OMIM

139340

Clinvar variants

Variants in GNAT2

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 GNAT2. Mode of inheritance for gene GNAT2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Achromatopsia-4,613856 for gene: GNAT2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GNAT2 was added gene: GNAT2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GNAT2 was set to Phenotypes for gene: GNAT2 were set to Eye Disorders

Structural eye disease Gene: GNAT2