Hereditary ataxia

Gene: NOP56

Red List (low evidence)

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

3 reviews

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:26 a.m.
Comment on mode of inheritance: Nucleotide repeat expansion. Tagged 1.12.16 by Alice Gardham
Created: 1 Dec 2016, 4:21 p.m.

emma baple (Genomics England Curator)

Comment when marking as ready: Good evidence. Expanded (GGCCTG)n hexanucleotide repeats, not appropriate currently
Created: 11 Jul 2016, 4:41 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.

Phenotypes
Spinocerebellarataxia36,614153

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia36,614153
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
Complete
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

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for NOP56 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for NOP56 was changed to Other - please specifiy in evaluation comments

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NOP56 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen