Ataxia and cerebellar anomalies - narrow panel
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: 2.288
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 3:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2 183090
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 Spinocerebellar ataxia 2, OMIM:183090
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn2_cag has been classified as Green List (High Evidence).
STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list STR tags were added to STR: ATXN2_CAG. Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090 Review for STR: ATXN2_CAG was set to GREEN