Congenital myopathy
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: 2.79
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, 2:32 p.m.
Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert listCreated: 4 Dec 2018, 2:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Variants in this STR are reported as part of current diagnostic practice
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 Congenital myopathy. 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