Congenital muscular dystrophy

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 = 38
Pathogenic Number of Repeats: = or > 50

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

1 review

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results Sources
Created: 4 Dec 2018, 12:50 p.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert Review
Created: 4 Dec 2018, 12:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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 =
38
Pathogenic Number of Repeats: = or >
50
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
STR
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
None

History Filter Activity

18 Dec 2018, Gel status: 3

Changed GRCh37, Status Update

Louise Daugherty (Genomics England Curator)

GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Dec 2018, Gel status: 3

Set Phenotypes

Arianna Tucci (Genomics England Curator)

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

5 Dec 2018, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag STR tag was added to STR: DMPK_CTG.

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

Created, Added New Source, Set mode of inheritance

Arianna Tucci (Genomics England Curator)

STR: DMPK_CTG was added STR: DMPK_CTG was added to Congenital muscular dystrophy. Sources: Expert Review Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: DMPK_CTG was marked as current diagnostic