Brain channelopathy
STR: ATN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:38 a.m. | Last Modified: 15 Mar 2022, 11:38 a.m.
Panel Version: 1.77
Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR resultsCreated: 4 Dec 2018, 2:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dentatorubro-pallidoluysian atrophy 125370
Publications
Variants in this STR are reported as part of current diagnostic practice
Str: atn1_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for ATN1_CAG was changed from 35 to 36. Source NHS GMS was added to STR: ATN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
GRCh38 position for ATN1_CAG was changed from 6936717-6936773 to 6936717-6936772. Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: atn1_cag has been classified as Green List (High Evidence).
Str: atn1_cag has been classified as Green List (High Evidence).
STR was added to STR: ATN1_CAG. Panel: Brain channelopathy
STR: ATN1_CAG was added to Brain channelopathy panel. Sources: Expert list
STR: ATN1_CAG was created by Ellen McDonagh