Amyotrophic lateral sclerosis/motor neuron disease
STR: ATXN2_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:46 a.m. | Last Modified: 15 Mar 2022, 11:46 a.m.
Panel Version: 1.56
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.Created: 5 Dec 2018, 5:45 p.m.
Comments from Arianna Tucci: Paternal transmission of expanded alleles more unstable.Created: 31 May 2018, 2:09 p.m.
Variants in this STR are reported as part of current diagnostic practice
Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_CAG.
Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Tag curated_removed tag was added to STR: ATXN2_CAG.
Str: atxn2_cag has been removed from the panel.
GRCh37 position for ATXN2_CAG was changed from 111881289-112037480 to 112036755-112036823. Panel: Amyotrophic lateral sclerosis/motor neuron disease GRCh38 position for ATXN2_CAG was changed from 111443485-111599676 to 111598951-111599019. Panel: Amyotrophic lateral sclerosis/motor neuron disease
STR was added to STR: ATXN2_CAG. Panel: Amyotrophic lateral sclerosis/motor neuron disease
STR: ATXN2_CAG was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list
STR: ATXN2_CAG was created by Ellen McDonagh