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Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Fifteen individuals from 12 unrelated families reported.
Sources: Literature
Created: 12 Dec 2019, 1:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • autism
  • seizures
  • variable brain abnormalities
  • scoliosis
OMIM
606582
Clinvar variants
Variants in DLL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, 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).

12 Dec 2019, 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).

12 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLL1 was added gene: DLL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: 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 Intellectual disability; autism; seizures; variable brain abnormalities; scoliosis Review for gene: DLL1 was set to GREEN