Mitochondrial disorders
STR: DMPK_CTGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:02 p.m. | Last Modified: 15 Mar 2022, 1:02 p.m.
Panel Version: 2.92
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, 1:05 p.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 4 Dec 2018, 1:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
GRCh37 position for DMPK_CTG was changed from 46273460-46273522 to 46273463-46273522. GRCh38 position for DMPK_CTG was changed from 45770205-45770263 to 45770205-45770264. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for STR: DMPK_CTG were changed from to Myotonic dystrophy 1 160900
Tag STR tag was added to STR: DMPK_CTG.
Str: dmpk_ctg has been classified as Green List (High Evidence).
Str: dmpk_ctg has been classified as Green List (High Evidence).
STR: DMPK_CTG was added STR: DMPK_CTG was added to Mitochondrial disorders. Sources: Expert Review Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: DMPK_CTG was marked as current diagnostic