Congenital myopathy
STR: DMPK_CTGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:54 p.m. | Last Modified: 15 Mar 2022, 12:54 p.m.
Panel Version: 2.79
Comment when marking as ready: Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018Created: 4 Dec 2018, 12:43 p.m.
Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018Created: 4 Dec 2018, 12:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 1 160900
Variants in this STR are reported as part of current diagnostic practice
Str: dmpk_ctg has been classified as Green List (High Evidence).
Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source NHS GMS was added to STR: DMPK_CTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Str: dmpk_ctg has been classified as Green List (High Evidence).
Str: dmpk_ctg has been classified as Green List (High Evidence).
Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
STR was added to STR: DMPK_CTG. Panel: Congenital myopathy
STR: DMPK_CTG was added to Congenital myopathy panel. Sources: Expert list
STR: DMPK_CTG was created by Ellen McDonagh