Gastrointestinal neuromuscular disorders

Gene: DMPK

Red List (low evidence)

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on mode of pathogenicity: CTG repeat expansion in the 3' UTR region. Information in OMIM indicates that unaffected individuals have between 5 and 37 copies, whereas dystrophia myotonica patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases.
Created: 19 Oct 2016, 8:56 a.m.
Comment on list classification: Demoted from green to red due to the disease-causing mechanism - myotonic dystrophy is cause by a CTG repeat expansion in the 3' UTR region of the DMPK gene, rather than loss of function variants within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.

Created: 19 Oct 2016, 8:54 a.m.

Neil shah (GOSH)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DMPK were set to 27695335;27358583;27253733; 26640575;26586700

19 Oct 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments

19 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DMPK were set to Myotonic dystrophy 1 160900

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DMPK was created by sleigh