Congenital nystagmus
Gene: GNAT2

GNAT2 (G protein subunit alpha transducin 2)
EnsemblGeneIds (GRCh38): ENSG00000134183
EnsemblGeneIds (GRCh37): ENSG00000134183
OMIM: 139340, Gene2Phenotype
GNAT2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nystagmus is a feature.
Created: 25 Oct 2021, 2:28 a.m. | Last Modified: 25 Oct 2021, 2:28 a.m.

Panel Version: 0.37

Created: 25 Oct 2021, 2:28 a.m.
Last Modified: 25 Oct 2021, 2:28 a.m.
Panel version: 0.37

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Nine cases from four unrelated consanguineous families and a supporting zebrafish model.
Sources: Expert list
Created: 21 May 2020, 11:08 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 4 MIM#613856

Publications

Created: 21 May 2020, 11:08 p.m.

Panel version: Imported from Achromatopsia panel version 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Expert list

Phenotypes

Achromatopsia 4 MIM#613856

OMIM

139340

Clinvar variants

Variants in GNAT2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnat2 has been classified as Green List (High Evidence).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAT2 was added gene: GNAT2 was added to Congenital nystagmus. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNAT2 were set to 32203983; 17251445 Phenotypes for gene: GNAT2 were set to Achromatopsia 4 MIM#613856

Congenital nystagmus Gene: GNAT2