Hereditary ataxia with onset in adulthood
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
2 reviews
Arina Puzriakova (Genomics England Curator)
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: 2.147
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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 groupCreated: 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? NoCreated: 14 Apr 2019, 4:11 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert listCreated: 21 Dec 2018, 1:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36 614153
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
-
- London North GLH
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia 36, OMIM:614153
- Tags
- OMIM
- 614154
- Clinvar variants
- Variants in NOP56
- Penetrance
- None
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: NOP56_GGCCTG were changed from Spinocerebellar ataxia 36 614153 to Spinocerebellar ataxia 36, OMIM:614153
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to STR: NOP56_GGCCTG.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to STR: NOP56_GGCCTG.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to STR: NOP56_GGCCTG. Rating Changed from Green List (high evidence) to Green List (high evidence)
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Source PanelApp panels : Hered
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Str: nop56_ggcctg has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)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