Hereditary spastic paraplegia
STR: FXN_GAASTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:04 p.m. | Last Modified: 15 Mar 2022, 1:04 p.m.
Panel Version: 1.289
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, 1:18 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, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this STR are reported as part of current diagnostic practice
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
Pathogenic Number of Repeats for FXN_GAA was changed from 63 to 66.
GRCh38 position for FXN_GAA was changed from 69037287-69037303 to 69037287-69037304. Rating Changed from Green List (high evidence) to Green List (high evidence)
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 spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal STR: FXN_GAA was marked as current diagnostic