Hereditary ataxia - adult onsetSTR: NOP56_GGCCTG
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:13 p.m. | Last Modified: 5 Aug 2019, 3:13 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 9:34 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Multiple reports in the lit - requires STR reporting, no evidence for SNVs. Do you report variants in this gene as part of your current diagnostic practice? No
Created: 14 Apr 2019, 4:11 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 1:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 36 614153
Source London North GLH was added to STR: NOP56_GGCCTG.
Source Wessex and West Midlands GLH was added to STR: NOP56_GGCCTG.
Source NHS GMS was added to STR: NOP56_GGCCTG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Louise Daugherty: Source PanelApp panels : Hered
Str: nop56_ggcctg has been classified as Green List (High Evidence).
STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153 Review for STR: NOP56_GGCCTG was set to GREEN