Fetal hydrops

Gene: DMPK

Red List (low evidence)

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

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as red based on 'nucleotide-repeat-expansion' tag. Mode of inheritance complete.
Created: 19 Dec 2016, 11:35 a.m.
Added 'nucleotide repeat expansion' tag based on OMIM information. One DMPK variant is listed on OMIM for Myotonic Dystrophy (DM1, OMIM:160900) and refers to an amplified trinucleotide CTG repeat in the 3-prime untranslated region of DMPK. Unaffected individuals have between 5 and 37 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. The largest repeat sizes are seen in patients with congenital DM.
Created: 15 Dec 2016, 5:10 p.m.
Comment on list classification: Kept as 'red rating' because of the 'nucleotide-repeat-expansion' tag.
Created: 15 Dec 2016, 5:07 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 15 Dec 2016, 5:04 p.m.
PMID:8140064 (Stratton and Patterson, 1993) report a fetus with non-immune hydrops fetalis with a dignosis of congenital myotonic dystrophy. PMID:8140064 found reports of 15 other cases of nonimmune hydrops fetalis associated with congenital myotonic dystrophy.
Created: 15 Dec 2016, 5:03 p.m.
Non-LOF mode of pathogenicity: Myotonic dystrophy-1 (DM1) is caused by a heterozygous trinucleotide repeat expansion (CTG)n in the 3-prime untranslated region of the dystrophia myotonica protein kinase gene (DMPK).

DMPK is included in the gene panel for Fetal hydrops because there are multiple reports of non-immune hydrops fetalis associated with congenital myotonic dystrophy (e.g. PMID:8140064).
Created: 10 Oct 2016, 12:30 p.m.

Mode of pathogenicity
Other

Diana Wellesley (nhs)

Green List (high evidence)

Polyhydramnios more common but hydrops also reported.
Created: 22 Nov 2016, 10:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myotonic dystrophy, congenital onset associated with a high triplet repeat number. OMIM 160900

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myotonic dystrophy 1, 160900
  • DM1
  • Myotonic dystrophy, congenital onset associated with a high triplet repeat number
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
605377
Clinvar variants
Variants in DMPK
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

19 Dec 2016, Gel status: 1

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

15 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

15 Dec 2016, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

15 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DMPK were set to Myotonic dystrophy 1, 160900; DM1; Myotonic dystrophy, congenital onset associated with a high triplet repeat number

10 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DMPK was added to Fetal hydropspanel. Sources: Other

10 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DMPK was created by rfoulger