Hereditary neuropathy
STR: FXN_GAASTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:05 p.m. | Last Modified: 15 Mar 2022, 1:05 p.m.
Panel Version: 1.441
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: STR plus sequence mutationsCreated: 12 Jun 2019, 1:04 p.m.
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, 1:22 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, 1:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Str: fxn_gaa has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: FXN_GAA. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Phenotypes for STR: FXN_GAA were changed from to Friedreich ataxia 229300
Tag STR tag was added to STR: FXN_GAA.
Str: fxn_gaa has been classified as Green List (High Evidence).
Str: fxn_gaa has been classified as Green List (High Evidence).
STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Review for STR: FXN_GAA was set to GREEN