Deafness and congenital structural abnormalities
Gene: GSCComment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Four variants reported, three in separate homozygous cases (segregation demonstrated in one family, samples not available for the others). Expression studies in staged mouse embryos suggest that GSC is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals (PMID 24290375)Created: 14 Sep 2016, 12:33 p.m.
Comment on list classification: Expert green review, current diagnostic and evidence from publicationCreated: 14 Sep 2016, 11:06 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#602471:Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [Short stature; Malar hypoplasia; Micrognathia; Mandibular hypoplasia; Atretic external auditory canal; Abnormal middle ear ossicles; Hearing loss, conductive; Preauricular pits; Dysplastic pinnae; Deep-set eyes; Hypotelorism; Downslanting palpebral fissures; Small mouth; High-arched palate; Humero-scapulo synostosis; Scapular hypoplasia; Shortening of the clavicles; Feeding difficulties; Lack of testes; Lack of scrotal sac; Cryptorchidism; Contractures; Mandibular hypoplasia; Delayed ossification of pubic rami; Hip dislocation; Narrow sacrosciatic notches; Absence of pubic bones; Rhizomelic shortening; Bilateral humeral hypoplasia; Radial head dislocation; Clubfoot; Normal intelligence]
Publications
MIM 602471Created: 3 Feb 2016, 8:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes SAMS syndrome; 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).
Phenotypes for GSC were set to Bilateral Microtia; 602471; Short stature,auditory canal atresia,mandibular hypoplasia,skeletal abnormalities,602471; Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities;Causes SAMS syndrome; syndromic features
Publications for GSC were set to 24290375;9475592;12116210; 1677215; 1684739; 24290375; 7555718; 7916327; 8597641; 9144415
GSC was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen
GSC was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
GSC was created by sleigh