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  3. GSC
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Deafness and congenital structural abnormalities

Gene: GSC

Green List (high evidence)
GSC (goosecoid homeobox)
EnsemblGeneIds (GRCh38): ENSG00000133937
EnsemblGeneIds (GRCh37): ENSG00000133937
OMIM: 138890, Gene2Phenotype
GSC is in 5 panels

5 reviews

Sarah Leigh (Genomics England Curator)

Comment 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 publication
Created: 14 Sep 2016, 11:06 a.m.
Created: 14 Sep 2016, 11:05 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.55

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Phenotypes
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities

Publications

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

Created: 13 Sep 2016, 9:28 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, 2:22 p.m.
Created: 12 Sep 2016, 2:22 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.39

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

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 602471
Created: 3 Feb 2016, 8:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes SAMS syndrome; syndromic features

Publications

Created: 3 Feb 2016, 8:56 p.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • 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
OMIM
138890
Clinvar variants
Variants in GSC
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

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 Phenotypes

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GSC were set to 24290375;9475592;12116210; 1677215; 1684739; 24290375; 7555718; 7916327; 8597641; 9144415

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

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

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

GSC 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)

GSC was created by sleigh