Deafness and congenital structural abnormalities
Gene: GNAI3Comment 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.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:21 p.m.
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
MIM 602483Created: 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
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.
Phenotypes for GNAI3 were set to Bilateral Microtia; 602483; Causes AURICULOCONDYLAR syndrome with microtia; syndromic features; Auriculocondylar syndrome 1; Dysgnathia complex
This gene has been classified as Green List (High Evidence).
Publications for GNAI3 were set to 22560091;11102934; 23315542;1302014; 20733479; 22560091; 23315542; 2834384; 2902634; 7698751
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
GNAI3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
GNAI3 was created by sleigh