Adult onset neurodegenerative disorder

STR: NOP56_GGCCTG

Green List (high evidence)

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.

Created: 24 Feb 2025, 4:57 p.m. | Last Modified: 24 Feb 2025, 4:57 p.m.

Panel Version: 7.7

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).

Created: 31 Oct 2024, 12:29 p.m. | Last Modified: 31 Oct 2024, 12:29 p.m.

Panel Version: 7.1

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.

Created: 15 Mar 2022, 3:36 p.m. | Last Modified: 15 Mar 2022, 3:36 p.m.

Panel Version: 2.267

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

Created: 8 Oct 2020, 9:29 a.m. | Last Modified: 8 Oct 2020, 9:29 a.m.

Panel Version: 2.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

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.

Created: 23 Jul 2019, 5:01 p.m. | Last Modified: 23 Jul 2019, 5:01 p.m.

Panel Version: 1.75

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: 24 Apr 2019, 2:36 p.m.

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

Created: 20 Dec 2018, 3:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 36 614153