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DDG2P

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease SPONDYLOCOSTAL DYSOSTOSIS TYPE 1, OMIM:277300 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 10742114;12791036;2805381).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPONDYLOCOSTAL DYSOSTOSIS TYPE 1, OMIM:277300

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300
OMIM
602768
Clinvar variants
Variants in DLL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DLL3 were updated from 10742114; 2805381; 12791036 to 2805381; 10742114; 12791036

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DLL3 was added gene: DLL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLL3 were set to 10742114; 2805381; 12791036 Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300