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DDG2P

Gene: GNAI3

Green List (high evidence)
GNAI3 (G protein subunit alpha i3)
EnsemblGeneIds (GRCh38): ENSG00000065135
EnsemblGeneIds (GRCh37): ENSG00000065135
OMIM: 139370, Gene2Phenotype
GNAI3 is in 8 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GNAI3-related auriculocondylar syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 11102934, 22560091, 23315542, 25026904, 33723370, 34789173, 35170830, 39014351). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01127.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AURICULOCONDYLAR SYNDROME, OMIM:602483 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:11102934).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
GNAI3-related auriculocondylar syndrome; AURICULOCONDYLAR SYNDROME, OMIM:602483; OMIM:602483.0; MONDO:0011234

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AURICULOCONDYLAR SYNDROME 602483
OMIM
139370
Clinvar variants
Variants in GNAI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: GNAI3 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene GNAI3 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GNAI3 was added gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAI3 were set to 11102934 Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483 Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments