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Adult onset neurodegenerative disorder v7.7 NOP56_GGCCTG Arina Puzriakova Tag watchlist was removed from STR: NOP56_GGCCTG.
Tag Q3_24_promote_green was removed from STR: NOP56_GGCCTG.
Tag Q3_24_expert_review was removed from STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v7.7 NOP56_GGCCTG Arina Puzriakova edited their review of STR: NOP56_GGCCTG: Added comment: After GMS expert consideration, the rating of this STR has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v7.7 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v7.7 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v7.1 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder which is within the scope of this panel. Sufficient unrelated cases to support the gene-disease association. Flagging for additional GMS review to determine whether inclusion on this panel is beneficial as this STR was downgraded in 2020 due to omission from expert provided lists for this panel.

Currently this STR is only included as part of the R54 Hereditary ataxia with onset in adulthood GMS panel (v7.0).
Adult onset neurodegenerative disorder v7.1 NOP56_GGCCTG Arina Puzriakova Tag Q3_24_promote_green tag was added to STR: NOP56_GGCCTG.
Tag Q3_24_expert_review tag was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v4.28 NOP56_GGCCTG Sarah Leigh Deleted their review
Adult onset neurodegenerative disorder v4.28 NOP56_GGCCTG Sarah Leigh Tag Q3_23_promote_green was removed from STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v4.28 NOP56_GGCCTG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v4.28 NOP56_GGCCTG Sarah Leigh reviewed STR: NOP56_GGCCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v2.273 NOP56_GGCCTG Eleanor Williams Tag for-review was removed from STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v2.267 NOP56_GGCCTG Arina Puzriakova commented on STR: NOP56_GGCCTG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Adult onset neurodegenerative disorder v2.245 NOP56_GGCCTG Arina Puzriakova Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Adult onset neurodegenerative disorder v2.244 NOP56_GGCCTG Arina Puzriakova Tag watchlist tag was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v2.29 NOP56_GGCCTG Arina Puzriakova Classified STR: NOP56_GGCCTG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.29 NOP56_GGCCTG Arina Puzriakova Added comment: 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 Group
Adult onset neurodegenerative disorder v2.29 NOP56_GGCCTG Arina Puzriakova Str: nop56_ggcctg has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v2.28 NOP56_GGCCTG Arina Puzriakova Tag for-review tag was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.75 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Patients with longer disease duration show motor neuron involvement.
Adult onset neurodegenerative disorder v1.75 NOP56_GGCCTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.59 NOP56_GGCCTG Louise Daugherty Source NHS GMS was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.57 NOP56_GGCCTG Louise Daugherty Source London North GLH was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.13 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: 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.
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.49 NOP56_GGCCTG Louise Daugherty STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Neurodegenerative disorders - 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
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Amyotrophic lateral sclerosis/motor neuron disease v1.26, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45.
Sources: Expert list