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Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.
Created: 31 Jul 2021, 6:16 a.m. | Last Modified: 31 Jul 2021, 6:16 a.m.
Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Jul 2021, 6:16 a.m.
Last Modified: 31 Jul 2021, 6:16 a.m.
Panel version: 0.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471
OMIM
138890
Clinvar variants
Variants in GSC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2021, 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).

31 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GSC were changed from Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471

31 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GSC were set to

17 Dec 2019, Gel status: 3

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 Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSC were set to Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471