DDG2P
Gene: GSC

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) are moderate, biallelic_autosomal and loss of function (PMID:24290375). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03703.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:602471.0; MONDO:0011227; GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)

Publications

24290375

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0011227
OMIM:602471.0
GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)

OMIM

138890

Clinvar variants

Variants in GSC

Penetrance

None

Publications

24290375

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GSC was added gene: GSC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSC were set to 24290375 Phenotypes for gene: GSC were set to MONDO:0011227; OMIM:602471.0; GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)

DDG2P Gene: GSC