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Gastrointestinal neuromuscular disorders

STR: DMPK_CTG

Red List (low 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

2 reviews

Eleanor Williams (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 1 p.m. | Last Modified: 15 Mar 2022, 1 p.m.
Panel Version: 1.21
Created: 15 Mar 2022, 1 p.m.
Last Modified: 15 Mar 2022, 1 p.m.
Panel version: 1.21

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, 4:26 p.m.

Panel version: 1.7

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
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

10 Mar 2022, Gel status: 1

Changed Normal Number of Repeats, Added New Source, Added New Source

Arina Puzriakova (Genomics England Curator)

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

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900

5 Dec 2018, Gel status: 1

Changed Normal Number of Repeats

Louise Daugherty (Genomics England Curator)

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

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: DMPK_CTG. Panel: Neonatal and familial gastrointestinal neuromuscular disorders

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: DMPK_CTG was added to Neonatal and familial gastrointestinal neuromuscular disorders panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: DMPK_CTG was created by Ellen McDonagh