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Skeletal dysplasia

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

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Adams-Oliver listed in brachydactylies (with extraskeletal manifestations) gp of SD. Several cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 6, 616589

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DLL4; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Rachel Jones (GSTT)

Green List (high evidence)

Meester et al PMID: 26299364 using candidate gene approach identified 9 heterozygous mutations in DLL4 (which is a NOTCH ligand) from 91 families - same pathway as other genes previously idetified to cause Adams Oliver syndrome.

No functional studies were performed, but software predicted pathogenicity of missense mutations.

Evidence of non penetrance in the paper - affected siblings inheriting mutation from seemingly unaffected parent.
Sources: Other
Created: 10 Sep 2018, 3:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 6 616589

Publications

Created: 10 Sep 2018, 3:40 p.m.

Panel version: 1.108

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Adams-Oliver syndrome 6, 616589
OMIM
605185
Clinvar variants
Variants in DLL4
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Adams-Oliver syndrome 6, 616589 for gene: DLL4

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DLL4. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 Oct 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DLL4 were changed from Adams-Oliver syndrome 6 616589 to Adams-Oliver syndrome 6, 616589

11 Sep 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DLL4 were set to PMID: 26299364

11 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dll4 has been classified as Green List (High Evidence).

10 Sep 2018, Gel status: 1

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

Rachel Jones (GSTT)

gene: DLL4 was added gene: DLL4 was added to Unexplained skeletal dysplasia. Sources: Other Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLL4 were set to PMID: 26299364 Phenotypes for gene: DLL4 were set to Adams-Oliver syndrome 6 616589 Penetrance for gene: DLL4 were set to Incomplete Review for gene: DLL4 was set to GREEN