Deafness and congenital structural abnormalities
Gene: PLCB4Comment when marking as ready: Associated with phenotype in OMIM and "probable" association in G2P / DD. At least ten variants reported.Created: 14 Sep 2016, 11:52 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:42 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#614669:Auriculocondylar syndrome 2 [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, obstructive; Apnea, central (in some patients); 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 614669Created: 3 Feb 2016, 5:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
This gene has been classified as Green List (High Evidence).
Publications for PLCB4 were set to 23315542;12640460; 16114046; 18314001; 18680186; 18686566; 19152421; 20733479; 22051675; 22286465; 22560091; 23315542; 8530101; 9305844;18314001; 23315542; 22286465; 20733479; 22560091
PLCB4 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services PLCB4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen
PLCB4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
PLCB4 was created by sleigh