Congenital myopathy
Gene: DMPKComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:26 p.m. | Last Modified: 9 Nov 2021, 3:26 p.m.
Panel Version: 2.65
Entity type Gene is rated Red, the STR rated as Green was added 2019 due to changes to tiering capabilities of the pipelineCreated: 16 Oct 2019, 4:38 p.m. | Last Modified: 16 Oct 2019, 4:38 p.m.
Panel Version: 1.169
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myotonic dystrophy 1 160900
Comment when marking as ready: Remains red, as although it is a differential for a weak infant, it is not currently detectable by NGS (triplet repeat expansion). Tagged as such but remains red as not appropriate for use in tiering at present.Created: 22 Feb 2017, 9:58 a.m.
Congenital myotonic dystrophy is a major differential for a floppy / weak infant. Triplet repeat expansion causes the disease.Created: 16 Feb 2017, 2:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myotonic dystrophy 1 160900
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
DMPK was added to Congenital myopathypanel. Sources: UKGTN
DMPK was created by helen.brittain