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  3. GNAI3
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Congenital nystagmus

Gene: GNAI3

Red List (low evidence)
GNAI3 (G protein subunit alpha i3)
EnsemblGeneIds (GRCh38): ENSG00000065135
EnsemblGeneIds (GRCh37): ENSG00000065135
OMIM: 139370, Gene2Phenotype
GNAI3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Variants in this gene are associated with auriculocondylar syndrome.

Single study reporting enrichment of rare variants in an ocular albinism cohort, however limited evidence for pathogenicity.
Created: 28 Oct 2021, 1:19 a.m. | Last Modified: 28 Oct 2021, 1:19 a.m.
Panel Version: 0.162

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ocular albinism

Publications

Created: 28 Oct 2021, 1:19 a.m.
Last Modified: 28 Oct 2021, 1:19 a.m.
Panel version: 0.162

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Ocular albinism
OMIM
139370
Clinvar variants
Variants in GNAI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnai3 has been classified as Red List (Low Evidence).

28 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAI3 were changed from Auriculocondylar syndrome 1 602483; Ocular Albinism to Ocular albinism

28 Oct 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNAI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Auriculocondylar syndrome 1 602483; Ocular Albinism for gene: GNAI3

6 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAI3 was added gene: GNAI3 was added to Albinism or congenital nystagmus. Sources: Expert Review Red,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: GNAI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GNAI3 were set to 27607449 Phenotypes for gene: GNAI3 were set to Auriculocondylar syndrome 1 602483; Ocular Albinism