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  3. DLK1
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Differences of Sex Development

Gene: DLK1

Green List (high evidence)
DLK1 (delta like non-canonical Notch ligand 1)
EnsemblGeneIds (GRCh38): ENSG00000185559
EnsemblGeneIds (GRCh37): ENSG00000185559
OMIM: 176290, Gene2Phenotype
DLK1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 30462238 "three frameshift mutations of DLK1 (p.Gly199Alafs*11, p.Val271Cysfs*14, and p.Pro160Leufs*50) in five women from three families with CPP. Segregation analysis was consistent with the maternal imprinting of DLK1". PMID: 28324015 single large family, only affected females, central precocious puberty all carrying paternally inherited LOF variant (del/dup of 5'UTR and exon 1) absent DLK1 expression in all affected. Unclear if males affected as none reported to date.
Created: 4 Mar 2021, 5:26 a.m. | Last Modified: 4 Mar 2021, 5:26 a.m.
Panel Version: 0.197

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
central precocious puberty

Publications

Created: 4 Mar 2021, 5:26 a.m.
Last Modified: 4 Mar 2021, 5:26 a.m.
Panel version: 0.200

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
Phenotypes
  • central precocious puberty
OMIM
176290
Clinvar variants
Variants in DLK1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlk1 has been classified as Green List (High Evidence).

4 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLK1 were changed from to central precocious puberty

4 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLK1 were set to

4 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlk1 has been classified as Green List (High Evidence).

4 Mar 2021, Gel status: 1

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

Natasha Brown (Victorian Clinical Genetics Services)

gene: DLK1 was added gene: DLK1 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: DLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Penetrance for gene: DLK1 were set to unknown