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  3. NOP56
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Ataxia - adult onset

Gene: NOP56

No list
NOP56 (NOP56 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: A hexanucleotide (GGCCTG) repeat expansion in the first intron of the NOP56 gene is the only reported cause of disease.
Created: 27 Aug 2020, 5:28 a.m. | Last Modified: 27 Aug 2020, 5:28 a.m.
Panel Version: 0.90
Created: 27 Aug 2020, 5:28 a.m.
Last Modified: 27 Aug 2020, 5:28 a.m.
Panel version: 0.90

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 36, 614153
Tags
STR
OMIM
614154
Clinvar variants
Variants in NOP56
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nop56 has been removed from the panel.

27 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nop56 has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NOP56 were set to

27 Aug 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: NOP56.

27 Aug 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, 614153

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NOP56 was added gene: NOP56 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153