Hereditary neuropathy or pain disorder
STR: NOP56_GGCCTGGRCh37 Position: 2633380-2633403
GRCh38 Position: 2652734-2652757
Repeated Sequence: GGCCTG
Normal Number of Repeats: < 15
Pathogenic Number of Repeats: = or > 650
NOP56 (NOP56 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 0 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this STR has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion.Created: 25 Feb 2025, 10:18 a.m. | Last Modified: 25 Feb 2025, 10:24 a.m.
Panel Version: 6.150
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Gene entity was recently added by Alexander Rossor (UCL Institute of Neurology) indicating that NOP56 should be green on this panel (https://panelapp.genomicsengland.co.uk/panels/846/gene/NOP56/) Adding STR as mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs.
Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder. EMG in cases with skeletal muscle atrophy has shown neurogenic changes, indicating a lower motor neuropathy (PMID: 21683323). Flagging for additional GMS review to determine whether inclusion on this panel is beneficial.
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, 12:24 p.m. | Last Modified: 31 Oct 2024, 12:24 p.m.
Panel Version: 6.10
STR 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: 1.441
Louise Daugherty (Genomics England Curator)
New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green
Sources: Expert listCreated: 11 Jun 2019, 5:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36, 614153Late adult onset gait ataxia, tongue atrophy and fasciculation, distal motor neuropathy
Details
- Name
- NOP56_GGCCTG
- Chromosome
- 20
- GRCh37 Coordinates
- 2633380-2633403
- GRCh38 Coordinates
- 2652734-2652757
- Repeated Sequence
- GGCCTG
- Normal Number of Repeats: <
- 15
- Pathogenic Number of Repeats: = or >
- 650
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia 36, OMIM:614153
- Tags
- OMIM
- 614154
- Clinvar variants
- Variants in NOP56
- Penetrance
- None
- Publications
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from STR: NOP56_GGCCTG. Tag Q3_24_NHS_review was removed from STR: NOP56_GGCCTG. Tag Q3_24_expert_review was removed from STR: NOP56_GGCCTG.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: nop56_ggcctg has been classified as Green List (High Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for STR: NOP56_GGCCTG were set to
Added Tag, Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to STR: NOP56_GGCCTG. Tag Q3_24_NHS_review tag was added to STR: NOP56_GGCCTG. Tag Q3_24_expert_review tag was added to STR: NOP56_GGCCTG.
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review 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, OMIM:614153