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Childhood onset dystonia or chorea or related movement disorder

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoted from Amber to Red, this review is for the STR entity and not the gene entity
Created: 11 Nov 2021, 9:38 a.m. | Last Modified: 11 Nov 2021, 9:38 a.m.
Panel Version: 1.196
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 11 Nov 2021, 9:37 a.m. | Last Modified: 11 Nov 2021, 9:37 a.m.
Panel Version: 1.195

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

I don't know

History Filter Activity

11 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

11 Nov 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other

11 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

11 Nov 2021, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

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

8 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: NOP56 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: NOP56 was added gene: NOP56 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert Review Amber,London North GLH Mode of inheritance for gene: NOP56 was set to