Skeletal muscle channelopathy
Gene: DMPKComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:27 p.m. | Last Modified: 9 Nov 2021, 3:27 p.m.
Panel Version: 1.34
Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.Created: 8 Nov 2019, 3:38 p.m. | Last Modified: 8 Nov 2019, 3:38 p.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myotonic dystrophy 1, 160900
Publications
Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1, 160900 to Myotonic dystrophy 1, OMIM:160900
Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.
Gene: dmpk has been classified as Red List (Low Evidence).
Publications for gene DMPK were changed from to 7825566
Source NHS GMS was added to DMPK.
Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Myotonic dystrophy 1, 160900 for gene: DMPK
Source Expert Review Green was added to DMPK. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DMPK was added gene: DMPK was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: DMPK was set to