Ataxia and cerebellar anomalies - narrow panel
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: 2.288
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test GroupCreated: 8 Oct 2020, 9:13 a.m. | Last Modified: 8 Oct 2020, 9:13 a.m.
Panel Version: 2.19
Source PanelApp panels : Hereditary ataxia v1.150
Sources: Expert listCreated: 21 Dec 2018, 4:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36 614153
Tag for-review was removed from STR: NOP56_GGCCTG.
Source NHS GMS was added to STR: NOP56_GGCCTG.
Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Tag watchlist tag was added to STR: NOP56_GGCCTG.
Str: nop56_ggcctg has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to STR: NOP56_GGCCTG.
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 Ataxia and cerebellar anomalies - narrow panel. 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