Genes in panel

Hereditary ataxia - adult onset

Gene: NOP56

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group. The GREEN review from James Polke on behalf of London North GLH for GMS Neurology specialist test group relates to the STR and not the gene entity (and is indicated in his comments), as there are no SNVs for this gene being associated to the disorder, this gene is rated RED.
Created: 7 Jul 2019, 3:52 p.m. | Last Modified: 7 Jul 2019, 3:52 p.m.
Panel Version: 1.174
Review and rating submitted byJames Polke, on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m. | Last Modified: 7 Jul 2019, 3:52 p.m.
Panel Version: 1.174

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Hexanucleotide repeat. Multiple families. Japanese but also reported from Spain.
Created: 27 Apr 2019, 7:39 p.m.

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Hereditary ataxia v1.148
Phenotypes
  • Spinocerebellarataxia36,614153
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

7 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nop56 has been classified as Red List (Low Evidence).

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to NOP56.

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NOP56.

27 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NOP56. Rating Changed from Red List (low evidence) to Green List (high evidence)

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

18 Dec 2018, Gel status: 1

Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: NOP56. Tag currently-ngs-unreportable tag was added to gene: NOP56.

15 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

gene: NOP56 was added gene: NOP56 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153 Mode of pathogenicity for gene: NOP56 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments