Skeletal Dysplasia_Fetal
Gene: GSCEnsemblGeneIds (GRCh38): ENSG00000133937
EnsemblGeneIds (GRCh37): ENSG00000133937
OMIM: 138890, Gene2Phenotype
GSC is in 6 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition.
Sources: LiteratureCreated: 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
- PMID: 24290375
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
-
- PMID: 24290375
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gsc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gsc has been classified as Green List (High Evidence).
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