DLL1 Chromosome 6
Delta like canonical Notch ligand 1
Upload your DNA to see your personal genotypes for variants in DLL1.
What This Gene Does
DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Canonical Notch ligands
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000198719
Associated Conditions (8)
Inborn genetic diseases
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
DLL1-related disorder
Thyroid cancer
nonmedullary
1
Neurodevelopmental delay
See cases
Key Variants
RS1191762345
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139529686
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Inborn genetic diseases
Health Risk
RS146990317
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Health Risk
RS149451070
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189402834
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS190048473
Conflicting classifications of pathogenicity
Health Risk
RS199599888
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199850507
Conflicting classifications of pathogenicity
Inborn genetic diseases, DLL1-related disorder, Inborn genetic diseases
Health Risk
RS201394102
Conflicting classifications of pathogenicity
DLL1-related disorder, DLL1-related disorder
Health Risk
RS201909286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2483358297
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
Health Risk
RS370005717
Conflicting classifications of pathogenicity
Health Risk
All Variants (75)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1783805590 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS200801825 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2114957290 | Health Risk | Pathogenic | — |
| RS2114958184 | Health Risk | Pathogenic | — |
| RS2114964292 | Health Risk | Pathogenic | — |
| RS2114964680 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2483346143 | Health Risk | Pathogenic | — |
| RS2483346798 | Health Risk | Pathogenic | — |
| RS2483347067 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS2483348338 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS2483350170 | Health Risk | Pathogenic | — |
| RS2483351030 | Health Risk | Pathogenic | — |
| RS2483358114 | Health Risk | Pathogenic | — |
| RS2483362657 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS2483363365 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS2483363426 | Health Risk | Pathogenic | — |
| RS367852951 | Health Risk | Pathogenic | — |
| RS371262985 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS752177638 | Health Risk | Pathogenic | — |
| RS760008381 | Health Risk | Pathogenic | See cases, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Inborn genetic diseases |
| RS778540224 | Health Risk | Pathogenic | — |
| RS868738986 | Health Risk | Pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS1583151308 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
| RS1783602877 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Inborn genetic diseases |
| RS2483346002 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |