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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: DLL3

Green List (high evidence)

DLL3 (delta like canonical Notch ligand 3)
EnsemblGeneIds (GRCh38): ENSG00000090932
EnsemblGeneIds (GRCh37): ENSG00000090932
OMIM: 602768, Gene2Phenotype
DLL3 is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

characterized clinically by: a short trunk in proportion to height, Dysostoses with predominant vertebral with and without costal involvement gp of SD. Several cases reported; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 1, autosomal recessive 277300

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive 277300
OMIM
602768
Clinvar variants
Variants in DLL3
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: DLL3 was added gene: DLL3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive 277300