Adult onset neurodegenerative disorder
STR: AR_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:36 a.m. | Last Modified: 15 Mar 2022, 11:36 a.m.
Panel Version: 2.267
Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.Created: 23 Jul 2019, 4:49 p.m. | Last Modified: 23 Jul 2019, 4:49 p.m.
Panel Version: 1.75
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 2:04 p.m.
Source PanelApp panels : Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert listCreated: 21 Dec 2018, 10:34 a.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
Normal Number of Repeats for AR_CAG was changed from 34 to 35.
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
Source Yorkshire and North East GLH was added to STR: AR_CAG.
Source NHS GMS was added to STR: AR_CAG.
Source London North GLH was added to STR: AR_CAG.
Louise Daugherty: Source PanelApp panels : Amyot
Str: ar_cag has been classified as Green List (High Evidence).
STR: AR_CAG was added STR: AR_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: AR_CAG. 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) Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200