Hereditary neuropathy NOT PMP22 copy numberSTR: AR_CAG
Comment on list classification: changed rating : It was agreed that the 10 STRs submitted by Alex Rossor should be on the WGS panel only, with the exception of AR, which should be on both- so this STR was upgraded to Green - R78 has no mention of age in the directory, and will mostly be used for non-syndromic adult cases.
Created: 10 Dec 2019, 11:58 a.m. | Last Modified: 10 Dec 2019, 11:58 a.m.
Panel Version: 0.104
New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green.
Sources: Expert Review
Created: 7 Dec 2019, 12:37 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)
Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Str: ar_cag has been classified as Green List (High Evidence).
Str: ar_cag has been classified as Amber List (Moderate Evidence).
STR: AR_CAG was added STR: AR_CAG was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert Review 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 Review for STR: AR_CAG was set to GREEN