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  3. DLL3
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Congenital diaphragmatic hernia

Gene: DLL3

Red List (low 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)

Red List (low evidence)

Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.
Created: 20 Jun 2021, 8:53 a.m. | Last Modified: 20 Jun 2021, 8:53 a.m.
Panel Version: 0.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Created: 20 Jun 2021, 8:53 a.m.
Last Modified: 20 Jun 2021, 8:53 a.m.
Panel version: 0.38

Details

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

History Filter Activity

20 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dll3 has been classified as Red List (Low Evidence).

20 Jun 2021, Gel status: 1

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

20 Jun 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dll3 has been classified as Red List (Low Evidence).

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 Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DLL3 was set to Unknown