1. Panels
  2. Achromatopsia
  3. GNAT2
STRs in panel
Prev Next
Regions in panel
Prev Next

Achromatopsia

Gene: GNAT2

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

1 review

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: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Achromatopsia 4 MIM#613856
OMIM
139340
Clinvar variants
Variants in GNAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNAT2 was added gene: GNAT2 was added to Achromatopsia. Sources: 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 Review for gene: GNAT2 was set to GREEN