Skeletal muscle channelopathy
Gene: DMPK

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 3:27 p.m. | Last Modified: 9 Nov 2021, 3:27 p.m.

Panel Version: 1.34

Created: 9 Nov 2021, 3:27 p.m.
Last Modified: 9 Nov 2021, 3:27 p.m.
Panel version: 1.34

Louise Daugherty (Genomics England Curator)

Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.
Created: 8 Nov 2019, 3:38 p.m. | Last Modified: 8 Nov 2019, 3:38 p.m.

Panel Version: 0.25

Created: 8 Nov 2019, 3:38 p.m.
Last Modified: 8 Nov 2019, 3:38 p.m.
Panel version: 0.25

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myotonic dystrophy 1, 160900

Publications

Wong et al 1995 Am J Hum Genet 56, 114-122 PMID: 7825566

Created: 25 Oct 2019, 12:31 p.m.
Last Modified: 25 Oct 2019, 12:31 p.m.
Panel version: 0.15

Details

Mode of Inheritance

Other

Sources

Expert Review Red
NHS GMS
London North GLH

Phenotypes

Myotonic dystrophy 1, OMIM:160900

Tags

nucleotide-repeat-expansion currently-ngs-unreportable

OMIM

605377

Clinvar variants

Variants in DMPK

Penetrance

None

Publications

7825566

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

9 Nov 2021, Gel status: 1

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other

9 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.

8 Nov 2019, Gel status: 1