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Hereditary ataxia - adult onset

STR: NOP56_GGCCTG

Green List (high evidence)

Chromosome: 20
GRCh37 Position: 2633380-2633403
GRCh38 Position: 2652734-2652757
Repeated Sequence: GGCCTG
Normal Number of Repeats: < or = 15
Pathogenic Number of Repeats: = or > 650

NOP56 (NOP56 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Green
Created: 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 group
Created: 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? No
Created: 14 Apr 2019, 4:11 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 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: < or =
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 614153
Tags
STR
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None

History Filter Activity

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: NOP56_GGCCTG.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to STR: NOP56_GGCCTG.

14 Apr 2019, Gel status: 3

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)

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: nop56_ggcctg has been classified as Green List (High Evidence).

21 Dec 2018, Gel status: 1

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