1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. DMPK_CTG

Congenital muscular dystrophy and congenital myopathy

STR: DMPK_CTG

Green List (high evidence)
Chromosome: 19
GRCh37 Position: 46273463-46273522
GRCh38 Position: 45770205-45770264
Repeated Sequence: CTG
Normal Number of Repeats: < 35
Pathogenic Number of Repeats: = or > 50

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 0 panels

3 reviews

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:54 p.m. | Last Modified: 15 Mar 2022, 12:54 p.m.
Panel Version: 2.79
Created: 15 Mar 2022, 12:54 p.m.
Last Modified: 15 Mar 2022, 12:54 p.m.
Copied from panel: Congenital myopathy v3.121

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018
Created: 4 Dec 2018, 12:43 p.m.
Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018
Created: 4 Dec 2018, 12:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 4 Dec 2018, 12:42 p.m.

Copied from panel: Congenital myopathy v3.121

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1 160900

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

Created: 31 May 2018, 12:43 p.m.

Copied from panel: Congenital myopathy v3.121

Details

Name
DMPK_CTG
Chromosome
19
GRCh37 Coordinates
46273463-46273522
GRCh38 Coordinates
45770205-45770264
Repeated Sequence
CTG
Normal Number of Repeats: <
35
Pathogenic Number of Repeats: = or >
50
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

7 Feb 2023, Gel status: 3

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

STR: DMPK_CTG was added STR: DMPK_CTG was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert list,NHS GMS,Expert Review Green STR tags were added to STR: DMPK_CTG. Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900