Arthrogryposis
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: 3.141
Congenital contractures seen in congenital form onlyCreated: 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
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, NOT imprinted to Other
Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.
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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
DMPK was created by agardham
DMPK was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN