Paroxysmal central nervous system 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: < or = 38
Pathogenic Number of Repeats: = or > 50

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 18 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Comment on list classification: Demoted STR from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.
Created: 1 Oct 2019, 12:32 p.m. | Last Modified: 1 Oct 2019, 12:32 p.m.
Panel Version: 0.165
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: DMPK_CTG. Suggested rating: ?; Comments provided: Triplet repeat.
Created: 1 Oct 2019, 10:30 a.m. | Last Modified: 1 Oct 2019, 10:30 a.m.
Panel Version: 0.157
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: DMPK_CTG. Suggested rating: Red; Comments provided: None.
Created: 23 Sep 2019, 10:27 a.m. | Last Modified: 23 Sep 2019, 10:27 a.m.
Panel Version: 0.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Source PanelApp panels : Skeletal Muscle Channelopathies v1.11
Sources: Expert list
Created: 11 Jan 2019, 5:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1 160900

Details

Name
DMPK_CTG
Chromosome
19
GRCh37 Coordinates
46273463-46273522
GRCh38 Coordinates
45770205-45770264
Repeated Sequence
CTG
Normal Number of Repeats: < or =
38
Pathogenic Number of Repeats: = or >
50
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

1 Oct 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Str: dmpk_ctg has been classified as Red List (Low Evidence).

11 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

11 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: DMPK_CTG was added STR: DMPK_CTG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert list 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 160900 Review for STR: DMPK_CTG was set to GREEN