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Fetal anomalies

Gene: GSC

Green List (high evidence)
GSC (goosecoid homeobox)
EnsemblGeneIds (GRCh38): ENSG00000133937
EnsemblGeneIds (GRCh37): ENSG00000133937
OMIM: 138890, Gene2Phenotype
GSC is in 6 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes.

Three unrelated families reported in 2013.

some features relevant for this panel:
Neonatal respiratory insufficiency, talipes and skeletal abnormalities
Created: 4 Jan 2022, 12:56 a.m. | Last Modified: 4 Jan 2022, 12:56 a.m.
Panel Version: 0.1765

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

Publications

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

Created: 4 Jan 2022, 12:56 a.m.
Last Modified: 4 Jan 2022, 12:56 a.m.
Panel version: 0.1765

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471
OMIM
138890
Clinvar variants
Variants in GSC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsc has been classified as Green List (High Evidence).

4 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GSC were set to

4 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsc has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GSC was added gene: GSC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSC were set to Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227; Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471