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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine individuals from four unrelated consanguineous families and a supporting zebrafish model.
Created: 25 Oct 2021, 2:29 a.m. | Last Modified: 25 Oct 2021, 2:29 a.m.
Panel Version: 0.9455

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achromatopsia 4 MIM#613856

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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).

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAT2 were changed from to Achromatopsia 4, MIM#613856

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNAT2 were set to

25 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAT2 was added gene: GNAT2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAT2 was set to Unknown