Skeletal Dysplasia_Fetal

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition.
Sources: Literature
Created: 4 Nov 2022, 6:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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

10 Nov 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).

10 Nov 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 Nov 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: GSC was added gene: GSC was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSC were set to PMID: 24290375 Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471 Review for gene: GSC was set to GREEN