Research panel - Severe Paediatric Disorders
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 list classification: Genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. Should be demoted to Red due to disease mechanism however as this is a research panel based on a publication the Green rating will be maintained.
Created: 9 Jul 2021, 12:06 p.m. | Last Modified: 9 Nov 2021, 3:34 p.m.

Panel Version: 1.86

Created: 9 Jul 2021, 12:06 p.m.
Last Modified: 9 Nov 2021, 3:34 p.m.
Panel version: 1.81

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

Causes myotinic dystrophy only due to STR expansion, not SNVs.
Created: 30 Jun 2021, 11:03 a.m. | Last Modified: 30 Jun 2021, 11:06 a.m.

Panel Version: 1.78

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 30 Jun 2021, 11:03 a.m.
Last Modified: 30 Jun 2021, 11:06 a.m.
Panel version: 1.78

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DMPK; Recommended initial gene rating: Green List (high evidence); Phenotypes: Myotonic dystrophy 1, 160900 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Next Generation Children Project
Expert list

Phenotypes

Myotonic dystrophy 1, OMIM:160900

Tags

nucleotide-repeat-expansion currently-ngs-unreportable

OMIM

605377

Clinvar variants

Variants in DMPK

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 3

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.

9 Nov 2021, Gel status: 3

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: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

9 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

21 Feb 2020, Gel status: 3