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DDG2P

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.

The disease-causing mechanism is an amplified trinucleotide CTG repeat in the 3'UTR, rather than SNVs within the gene. As the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR should be promoted to Green in this panel to ensure that cases are detected.
Created: 9 Oct 2023, 7:03 p.m. | Last Modified: 9 Oct 2023, 7:03 p.m.
Panel Version: 3.72
Created: 9 Oct 2023, 7:03 p.m.
Last Modified: 9 Oct 2023, 7:03 p.m.
Panel version: 3.72

Eleanor Williams (Genomics England Curator)

Removed the Q3_21_rating and Q3_21_expert_review tags because this STR is green on other component panels of the Paediatric disorders superpanel and so does not need to be green here.
Created: 17 May 2023, 4:20 p.m. | Last Modified: 17 May 2023, 4:20 p.m.
Panel Version: 3.2
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:55 p.m. | Last Modified: 15 Mar 2022, 12:55 p.m.
Panel Version: 2.65
Created: 15 Mar 2022, 12:55 p.m.
Last Modified: 15 Mar 2022, 12:55 p.m.
Panel version: 3.2

Arina Puzriakova (Genomics England Curator)

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). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured.

Only relevant in a paediatric setting 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, 12:54 p.m. | Last Modified: 9 Jul 2021, 12:57 p.m.
Panel Version: 2.37
Created: 9 Jul 2021, 12:54 p.m.
Last Modified: 9 Jul 2021, 12:57 p.m.
Panel version: 2.37

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

9 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

9 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

9 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

17 May 2023, Gel status: 2

Removed Tag, Removed Tag

Eleanor Williams (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 DDG2P. 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