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  2. Deafness and congenital structural abnormalities
  3. GNAI3
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Deafness and congenital structural abnormalities

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Only two variants reported in a total of three cases. Inheritance and partial penetrance demonstrated in two of the cases. Functional studies presented in PMID 22560091, support involvement of this gene in Auriculocondylar syndrome.
Created: 14 Sep 2016, 10:42 a.m.
Created: 14 Sep 2016, 10:42 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.51

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auriculocondylar syndrome 1; Dysgnathia complex

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Sep 2016, 9:22 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.33

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:21 p.m.
Created: 12 Sep 2016, 2:21 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.34

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Phenotypes
#602483:Auriculocondylar syndrome 1 [Macrocephaly (25%); Micrognathia; Round facial appearance; Prominent cheeks; Malformed ears; Auricular clefts; Cleft at the junction of the lobule and helix; Lobule may be separately from the rest of the external ear; Cleft at the superior portion of the pinna; Cupped pinna; Overfolding of the superior helices; Underdeveloped superior helices; Pre- and post-auricular skin or cartilaginous tags; Low-set ears; Posteriorly rotated ears; Stenotic ear canals (30%); Ear constriction (97%); Microstomia (52%); Glossoptosis (46%); Abnormal palate (63%); Cleft palate; Mastication difficulties; Speech articulation difficulties; Crowded teeth; Malocclusion; Open anterior bite; Posterior crossbite; Respiratory difficulties due to orofacial malformations (36%); Apnea; Snoring; Mandibular condyle hypoplasia; Mandibular condyle aplasia; Mandibular agenesis; Asymmetric mandible; Short mandibular rami; Small mandibular coronoid processes; Temporomandibular joint abnormalities; Ankylosis of the temporomandibular joints]

Publications

Created: 9 Feb 2016, 5:15 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

MIM 602483
Created: 3 Feb 2016, 5:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Causes AURICULOCONDYLAR syndrome with microtia; syndromic features

Publications

Created: 3 Feb 2016, 5:23 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 602483
  • Causes AURICULOCONDYLAR syndrome with microtia
  • syndromic features
  • Auriculocondylar syndrome 1
  • Dysgnathia complex
OMIM
139370
Clinvar variants
Variants in GNAI3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GNAI3 were set to Bilateral Microtia; 602483; Causes AURICULOCONDYLAR syndrome with microtia; syndromic features; Auriculocondylar syndrome 1; Dysgnathia complex

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GNAI3 were set to 22560091;11102934; 23315542;1302014; 20733479; 22560091; 23315542; 2834384; 2902634; 7698751

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GNAI3 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen GNAI3 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GNAI3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GNAI3 was created by sleigh