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Spondylocostal Dysostosis

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 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, well established gene-disease association.
Created: 1 Dec 2021, 6:09 a.m. | Last Modified: 1 Dec 2021, 6:09 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Publications

Created: 1 Dec 2021, 6:09 a.m.
Last Modified: 1 Dec 2021, 6:09 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
OMIM
602768
Clinvar variants
Variants in DLL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dll3 has been classified as Green List (High Evidence).

1 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

1 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLL3 were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLL3 was added gene: DLL3 was added to Spondylocostal Dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal