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Dilated Cardiomyopathy and conduction defects

Gene: DMPK

Red List (low evidence)
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, 3:25 p.m. | Last Modified: 9 Nov 2021, 3:25 p.m.
Panel Version: 1.73
Created: 9 Nov 2021, 3:25 p.m.
Last Modified: 9 Nov 2021, 3:25 p.m.
Panel version: 1.73

Rebecca Whittington (South West GLH)

Red List (low evidence)

Myotonic dystrophy 1 OMIM#160900
Created: 25 Mar 2019, 4:30 p.m.
Myotonic dystrophy gene - a few variants found in the lab but main cause of disease is expansion. HGMD - no variant listed with cardiomyopathy
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

History Filter Activity

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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, NOT imprinted 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.

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to DMPK. Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMPK was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list