Gastrointestinal neuromuscular disordersGene: DMPK
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Publications for DMPK were set to 27695335;27358583;27253733; 26640575;26586700
Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
Phenotypes for DMPK were set to Myotonic dystrophy 1 160900
DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
DMPK was created by sleigh