Epileptic encephalopathy
STR: ATN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:39 a.m. | Last Modified: 15 Mar 2022, 11:39 a.m.
Panel Version: 1.158
Comment when marking as ready: Marked as ready following the Webex discussion with GMC experts (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 10:25 a.m.
Added to the panel following the Webex discussion with GMC experts (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 5 Dec 2018, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 12537 to Dentatorubro-pallidoluysian atrophy 125370
Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 12537
Tag STR tag was added to STR: ATN1_CAG.
Str: atn1_cag has been classified as Green List (High Evidence).
Str: atn1_cag has been classified as Green List (High Evidence).
STR: ATN1_CAG was added STR: ATN1_CAG was added to Epileptic encephalopathy. Sources: Expert Review Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted