Repeat Disorders
STR: DM1GRCh37 Position: 46273463-46273522
GRCh38 Position: 45770205-45770264
Repeated Sequence: CTG
Normal Number of Repeats: < 34
Pathogenic Number of Repeats: = or > 50
DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X]
RNA toxic gain of function is mechanism of disease
Premutation: 35-49 repeats, no clinical signs
Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia
Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia
Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults
Sources: Expert listCreated: 15 Aug 2021, 7 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 1 MIM#160900
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- DM1
- Chromosome
- 19
- GRCh37 Coordinates
- 46273463-46273522
- GRCh38 Coordinates
- 45770205-45770264
- Repeated Sequence
- CTG
- Normal Number of Repeats: <
- 34
- Pathogenic Number of Repeats: = or >
- 50
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Myotonic dystrophy 1 MIM#160900
- Tags
- OMIM
- 605377
- Clinvar variants
- Variants in DMPK
- Penetrance
- None
- Publications
History Filter Activity
Added Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag adult-onset tag was added to STR: DM1. Tag paediatric-onset tag was added to STR: DM1.
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for STR: DM1 were set to 20301344; 29325606
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: dm1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: dm1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: DM1 was added STR: DM1 was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: DM1 were set to 20301344; 29325606 Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900 Review for STR: DM1 was set to GREEN STR: DM1 was marked as clinically relevant