Distal myopathies
STR: AR_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:35 a.m. | Last Modified: 15 Mar 2022, 11:35 a.m.
Panel Version: 1.45
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, 2:29 p.m.
Phenotypes
Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Str: ar_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Phenotypes for STR: AR_CAG were changed from to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tag STR tag was added to STR: AR_CAG.
Str: ar_cag has been classified as Green List (High Evidence).
Str: ar_cag has been classified as Green List (High Evidence).
STR: AR_CAG was added STR: AR_CAG was added to Distal myopathies. Sources: Expert list Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STR: AR_CAG was marked as current diagnostic