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Fetal anomalies

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, 12:59 p.m. | Last Modified: 15 Mar 2022, 12:59 p.m.
Panel Version: 1.842
Created: 15 Mar 2022, 12:59 p.m.
Last Modified: 15 Mar 2022, 12:59 p.m.
Panel version: 1.842

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 12:35 p.m. | Last Modified: 12 Dec 2025, 12:35 p.m.
Panel Version: 6.117
Comment on list classification: There is sufficient evidence to support the association with Myotonic dystrophy. This STR is Green on multiple GMS panels meaning that it has been approved by the NHS STR working group and can be promoted to Green on this panel at the next GMS panel update.
Created: 5 Sep 2025, 3:48 p.m. | Last Modified: 5 Sep 2025, 3:48 p.m.
Panel Version: 6.27
This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 3:11 p.m. | Last Modified: 5 Sep 2025, 3:11 p.m.
Panel Version: 6.24
Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group:

"Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement. Few published cases include prenatal neuroimaging findings, and ventriculomegaly has been described Shear et al, 2024: report expansion of the prenatal phenotype of DM1 with fetal SVT and frontal bossing with dilated subarachnoid spaces."
Created: 5 Sep 2025, 3:03 p.m. | Last Modified: 5 Sep 2025, 3:03 p.m.
Panel Version: 6.24
After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber.
Created: 30 Jan 2023, 4:27 p.m. | Last Modified: 30 Jan 2023, 4:27 p.m.
Panel Version: 2.10
Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected.

Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
Created: 9 Jul 2021, 12:59 p.m. | Last Modified: 9 Jul 2021, 12:59 p.m.
Panel Version: 1.689

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1

Created: 9 Jul 2021, 12:59 p.m.
Last Modified: 9 Jul 2021, 12:59 p.m.
Panel version: 6.117

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS.
Sources: Expert list
Created: 8 Nov 2019, 3:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1, 16090

Publications

Created: 8 Nov 2019, 3:38 p.m.

Copied from panel: Skeletal muscle channelopathy v1.31

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
Publications

History Filter Activity

12 Dec 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: dmpk_ctg has been classified as Green List (High Evidence).

12 Dec 2025, Gel status: 2

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from STR: DMPK_CTG. Tag Q3_25_NHS_review was removed from STR: DMPK_CTG.

5 Sep 2025, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_expert_review was removed from STR: DMPK_CTG.

5 Sep 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).

5 Sep 2025, Gel status: 2

Added Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to STR: DMPK_CTG. Tag Q3_25_expert_review tag was added to STR: DMPK_CTG. Tag Q3_25_NHS_review tag was added to STR: DMPK_CTG.

30 Jan 2023, Gel status: 2

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from STR: DMPK_CTG. Tag Q3_21_expert_review was removed from STR: DMPK_CTG.

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source NHS GMS was added to STR: DMPK_CTG.

9 Jul 2021, Gel status: 2

Added Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag STR tag was added to STR: DMPK_CTG. Tag Q3_21_rating tag was added to STR: DMPK_CTG. Tag Q3_21_expert_review tag was added to STR: DMPK_CTG.

9 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).

9 Jul 2021, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

STR: DMPK_CTG was added STR: DMPK_CTG was added to Fetal anomalies. Sources: Expert Review Green,Expert list Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: DMPK_CTG were set to 7825566 Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900