Hereditary ataxia
STR: NOP56_GGCCTGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:35 p.m. | Last Modified: 15 Mar 2022, 3:35 p.m.
Panel Version: 1.298
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36 614153
Variants in this STR are reported as part of current diagnostic practice
Str: nop56_ggcctg has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: NOP56_GGCCTG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Str: nop56_ggcctg has been classified as Green List (High Evidence).
Normal Number of Repeats for NOP56_GGCCTG was changed from 14 to 15.
Str: nop56_ggcctg has been classified as Red List (Low Evidence).
STR was added to STR: NOP56_GGCCTG. Panel: Hereditary ataxia
STR: NOP56_GGCCTG was added to Hereditary ataxia panel. Sources: Expert list
STR: NOP56_GGCCTG was created by Ellen McDonagh