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Intellectual disability syndromic and non-syndromic

Gene: DMPK

No list

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: STR is the only cause of condition for this gene and is present in STRs for this panel.
Created: 22 Mar 2021, 12:42 a.m. | Last Modified: 22 Mar 2021, 12:42 a.m.
Panel Version: 0.3542

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual disability is a feature of the congenital form of this triplet expansion disorder.
Created: 1 Dec 2019, 12:04 a.m. | Last Modified: 1 Dec 2019, 12:04 a.m.
Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1, MIM#160900

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Genetic Health Queensland
Phenotypes
  • Myotonic dystrophy 1, MIM#160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None
Panels with this gene

History Filter Activity

22 Mar 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dmpk has been removed from the panel.

1 Feb 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: DMPK.

1 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, MIM#160900

1 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DMPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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