Early onset or syndromic epilepsy
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: 2.498
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested gene rating: Green. Evidence for inclusion: PMID:7868125. Suggested mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted. Review comments: None.Created: 6 Aug 2019, 9:16 p.m. | Last Modified: 6 Aug 2019, 9:16 p.m.
Panel Version: 1.191
Comment when marking as ready: Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 5:09 p.m.
Sources: Expert ReviewCreated: 5 Dec 2018, 5:08 p.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. 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
Source NHS GMS was added to STR: ATN1_CAG.
GRCh38 position for ATN1_CAG was changed from 6936717-6936742 to 6936717-6936772. Rating Changed from Green List (high evidence) to Green List (high evidence)
Arianna Tucci: Sources: Expert Review
Phenotypes for STR: ATN1_CAG were changed from to Dentatorubro-pallidoluysian atrophy 125370
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 Genetic epilepsy syndromes. Sources: Expert Review Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATN1_CAG was set to GREEN