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  3. GNAT1
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Congenital nystagmus

Gene: GNAT1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Onset typically in childhood.
Created: 25 Oct 2021, 2:28 a.m. | Last Modified: 25 Oct 2021, 2:28 a.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary, autosomal dominant 3, IM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389

Created: 25 Oct 2021, 2:28 a.m.
Last Modified: 25 Oct 2021, 2:28 a.m.
Panel version: 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 3, IM# 610444
  • Night blindness, congenital stationary, type 1G, MIM# 616389
OMIM
139330
Clinvar variants
Variants in GNAT1
Penetrance
None
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnat1 has been classified as Red List (Low Evidence).

25 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAT1 were changed from Night blindness, congenital stationary, autosomal dominant 3, 610444 to Night blindness, congenital stationary, autosomal dominant 3, IM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389

25 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnat1 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAT1 was added gene: GNAT1 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GNAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GNAT1 were set to Night blindness, congenital stationary, autosomal dominant 3, 610444