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Limb disorders

Gene: DLL4

Green List (high evidence)
DLL4 (delta like canonical Notch ligand 4)
EnsemblGeneIds (GRCh38): ENSG00000128917
EnsemblGeneIds (GRCh37): ENSG00000128917
OMIM: 605185, Gene2Phenotype
DLL4 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported Adams-Oliver syndrome 6 616589
Created: 5 Apr 2018, 12:46 p.m.
Created: 5 Apr 2018, 12:46 p.m.

Panel version: 0.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Adams-Oliver syndrome 6 616589
OMIM
605185
Clinvar variants
Variants in DLL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

5 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DLL4 were set to 26299364

5 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DLL4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DLL4 were set to Adams-Oliver syndrome 6 616589

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to DLL4. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DLL4 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DLL4 was created by Ellen McDonagh