Paediatric motor neuronopathies
STR: DMPK_CTGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:01 p.m. | Last Modified: 15 Mar 2022, 1:01 p.m.
Panel Version: 1.76
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 4 Dec 2018, 1:09 p.m.
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
Normal Number of Repeats for DMPK_CTG was changed from 38 to 35. Source NHS GMS was added to STR: DMPK_CTG.
Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Str: dmpk_ctg has been classified as Red List (Low Evidence).
Str: dmpk_ctg has been classified as Red List (Low Evidence).
Str: dmpk_ctg has been classified as Green List (High Evidence).
STR was added to STR: DMPK_CTG. Panel: Paediatric motor neuronopathies
STR: DMPK_CTG was added to Paediatric motor neuronopathies panel. Sources: Expert list
STR: DMPK_CTG was created by Ellen McDonagh