Hereditary spastic paraplegia
STR: HTT_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 4:02 p.m. | Last Modified: 15 Mar 2022, 4:02 p.m.
Panel Version: 1.289
Comment when marking as ready: Marked as green following the Webex discussion with HD experts (6/09/2018) about feeding back HTT resultsCreated: 4 Dec 2018, 2:41 p.m.
Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back HTT results
Sources: Expert ReviewCreated: 4 Dec 2018, 2:39 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Str: htt_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for HTT_CAG was changed from 40 to 36. Source NHS GMS was added to STR: HTT_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
GRCh38 position for HTT_CAG was changed from 3074875-3074939 to 3074877-3074939. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for STR: HTT_CAG were changed from to Huntington disease 143100
Tag STR tag was added to STR: HTT_CAG.
Str: htt_cag has been classified as Green List (High Evidence).
Str: htt_cag has been classified as Green List (High Evidence).
Pathogenic Number of Repeats for HTT_CAG was changed from 37 to 40.
Pathogenic Number of Repeats for HTT_CAG was changed from 38 to 37.
STR: HTT_CAG was added STR: HTT_CAG was added to Hereditary spastic paraplegia. Sources: Expert Review Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: HTT_CAG was set to GREEN