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Arthrogryposis

Gene: DMPK

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

2 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, 3:26 p.m. | Last Modified: 9 Nov 2021, 3:26 p.m.
Panel Version: 3.141
Created: 9 Nov 2021, 3:26 p.m.
Last Modified: 9 Nov 2021, 3:26 p.m.
Panel version: 3.141

Alice Gardham (Genomics England)

Green List (high evidence)

Congenital contractures seen in congenital form only
Created: 9 Jan 2017, 12:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myotonic dystrophy 1 160900

Mode of pathogenicity
Other

Created: 9 Jan 2017, 12:08 p.m.

Panel version: 1.282

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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
Other - please provide details in the comments
Panels with this gene

History Filter Activity

9 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900

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 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

9 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

9 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

9 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

DMPK was created by agardham

9 Jan 2017, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

DMPK was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN