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  2. Intellectual disability syndromic and non-syndromic
  3. DLK1
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Intellectual disability syndromic and non-syndromic

Gene: DLK1

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

2 reviews

Natasha Brown (Victorian Clinical Genetics Services)

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, 3:04 a.m. | Last Modified: 4 Mar 2021, 3:04 a.m.
Panel Version: 0.3476

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

Phenotypes
central precocious puberty

Publications

Created: 4 Mar 2021, 3:04 a.m.
Last Modified: 4 Mar 2021, 3:04 a.m.
Panel version: 0.3476

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: Association with central precocious puberty but not ID.
Created: 4 Mar 2021, 5:23 a.m. | Last Modified: 4 Mar 2021, 5:23 a.m.
Panel Version: 0.3479
Possible associations with central precocious puberty, age of menarche and diabetes reported in the literature, does not meet evidentiary threshold for Mendelian gene-disease association at present.
Created: 1 Dec 2019, 12:01 a.m. | Last Modified: 1 Dec 2019, 12:01 a.m.
Panel Version: 0.98
Created: 1 Dec 2019, 12:01 a.m.
Last Modified: 1 Dec 2019, 12:01 a.m.
Panel version: 0.98

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Red
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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlk1 has been classified as Red List (Low Evidence).

4 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlk1 has been classified as Red List (Low Evidence).

4 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLK1 were set to PMID: 28324015

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

Removed Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance, Set publications

Natasha Brown (Victorian Clinical Genetics Services)

Source Genetic Health Queensland was removed from DLK1. Source Literature was added to DLK1. Mode of inheritance for gene DLK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: DLK1 were changed from to central precocious puberty Penetrance for gene DLK1 was set from to None Publications for gene DLK1 were changed from PMID: 28324015 to PMID: 28324015

1 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlk1 has been classified as Red List (Low Evidence).

1 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlk1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLK1 was added gene: DLK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLK1 was set to Unknown