Skeletal dysplasia
Gene: GSC

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not listed in SD nosology paper but phenotype is short stature with skeletal abnormalities. At least 3 cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GSC; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. At least three variants reported
Created: 28 Jul 2016, 1:39 p.m.

Created: 28 Jul 2016, 1:39 p.m.

Panel version: 0.922

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

Created: 17 Jun 2016, 8:04 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471
Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471

OMIM

138890

Clinvar variants

Variants in GSC

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 for gene: GSC

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to GSC. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4