Mandibulofacial Acrofacial dysostosis

Gene: GNAI3

Green List (high 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)

Green List (high evidence)

In a literature review of 14 patients, Storm et al. (2005) reported the most common clinical signs of (Auriculocondylar syndrome) ARCND: abnormalities of the TMJ/condyle (100%), ear constriction (96.8%), micrognathia (71%), abnormal palate (62.5%), prominent cheeks (57.1%), microstomia (51.9%), glossoptosis (45.5%), respiratory distress (36.4%), stenotic ear canals (30%), and hearing loss (21%).
Created: 31 Jul 2021, 6:04 a.m. | Last Modified: 31 Jul 2021, 6:04 a.m.
Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auriculocondylar syndrome 1, OMIM #602483

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 1, OMIM #602483
OMIM
139370
Clinvar variants
Variants in GNAI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnai3 has been classified as Green List (High Evidence).

31 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GNAI3 were changed from to Auriculocondylar syndrome 1, OMIM #602483

31 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNAI3 were set to

31 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAI3 was added gene: GNAI3 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAI3 was set to Unknown