Skeletal Muscle Channelopathies

STR: DMPK_CTG

Green List (high evidence)

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

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 19 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018
Created: 4 Dec 2018, 12:39 p.m.

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

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

Details

Name
DMPK_CTG
Chromosome
19
GRCh37 Coordinates
46273463-46273522
GRCh38 Coordinates
45770205-45770264
Repeated Sequence
CTG
Normal Number of Repeats: < or =
35
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 160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

15 Dec 2021, 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).

15 Dec 2021, Gel status: 1

Changed Normal Number of Repeats, Status Update

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Rating Changed from Green List (high evidence) to Red List (low evidence)

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

4 Dec 2018, Gel status: 1

Changed Normal Number of Repeats

Arianna Tucci (Genomics England Curator)

Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.

1 Jun 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: DMPK_CTG. Panel: Skeletal Muscle Channelopathies

1 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: DMPK_CTG was added to Skeletal Muscle Channelopathies panel. Sources: Expert list

1 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: DMPK_CTG was created by Ellen McDonagh