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Paediatric motor neuronopathies

Gene: DMPK

Red List (low evidence)
DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 3:30 p.m. | Last Modified: 9 Nov 2021, 3:30 p.m.
Panel Version: 1.70
Created: 9 Nov 2021, 3:30 p.m.
Last Modified: 9 Nov 2021, 3:30 p.m.
Panel version: 1.70

Pinki Munot (Consultant )

Red List (low evidence)

this test is important for the differential diagnosis for a hypotonic infant with feeding difficulty and hence may be included
this is a trinucleotide repeat expansion
Created: 2 Mar 2017, 7:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 Mar 2017, 7:36 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 11:40 a.m.
Comment on list classification: trinucleotide repeat expansion
Created: 14 Nov 2016, 2:13 p.m.
Created: 14 Nov 2016, 2:13 p.m.

Panel version: 0.29

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other

9 Jul 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DMPK were changed from spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14. to Myotonic dystrophy 1, OMIM:160900

9 Jul 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for DMPK was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

14 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

DMPK was added to Paediatric motor neuronopathiespanel. Sources: Emory Genetics Laboratory