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Fetal anomalies

Gene: DLL1

Green List (high evidence)
DLL1 (delta like canonical Notch ligand 1)
EnsemblGeneIds (GRCh38): ENSG00000198719
EnsemblGeneIds (GRCh37): ENSG00000198719
OMIM: 606582, Gene2Phenotype
DLL1 is in 7 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed non-specific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia.
Sources: Expert list, Literature
Created: 2 Dec 2021, 2:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709

Publications

Created: 2 Dec 2021, 2:35 a.m.

Panel version: 0.886

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia. Not specifically associated with HPE/SOD.
Created: 24 Aug 2020, 9:05 a.m. | Last Modified: 24 Aug 2020, 9:05 a.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709

Publications

Created: 24 Aug 2020, 9:05 a.m.
Last Modified: 24 Aug 2020, 9:05 a.m.
Panel version: Imported from Holoprosencephaly and septo-optic dysplasia panel version 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709
OMIM
606582
Clinvar variants
Variants in DLL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dll1 has been classified as Green List (High Evidence).

2 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dll1 has been classified as Green List (High Evidence).

2 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: DLL1 was added gene: DLL1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLL1 were set to 31353024 Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures - #618709 Review for gene: DLL1 was set to GREEN