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Retinal disorders

Gene: GNAT1

Green List (high evidence)

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

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
Comment on mode of inheritance: Source: OMIM
Created: 22 Mar 2016, 12:20 p.m.


Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Expert Review Green
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary, autosomal dominant 3, 610444
Clinvar variants
Variants in GNAT1
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GNAT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GNAT1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GNAT1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

GNAT1 was created by ellenmcdonagh