Skeletal Dysplasia_Fetal
Gene: DLL3

DLL3 (delta like canonical Notch ligand 3)
EnsemblGeneIds (GRCh38): ENSG00000090932
EnsemblGeneIds (GRCh37): ENSG00000090932
OMIM: 602768, Gene2Phenotype
DLL3 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number.

More than 10 unrelated families reported, well established gene-disease association.

Created: 20 Jun 2021, 8:53 a.m. | Last Modified: 1 Dec 2021, 6:04 a.m.

Panel Version: 0.870

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Publications

Created: 20 Jun 2021, 8:53 a.m.
Last Modified: 1 Dec 2021, 6:04 a.m.
Panel version: Imported from Fetal anomalies panel version 0.870

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

OMIM

602768

Clinvar variants

Variants in DLL3

Penetrance

None

Publications

Panels with this gene