This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NOP56
NOP56 (NOP56 ribonucleoprotein)
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 10 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Downgraded gene status from Amber to Red there is no evidence to suggest NOP56 variants cause a ID phenotypeCreated: 26 Feb 2018, 2:37 p.m.
Variants in NOP56 predominately cause a movement disorder phenotype, intellectual disability is not a feature of Spinocerebellar ataxia 36.Created: 26 Feb 2018, 2:35 p.m.
Comment on phenotypes: added phenotype from OMIMCreated: 26 Feb 2018, 1:59 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Spinocerebellar ataxia 36, 614153
- OMIM
- 614154
- Clinvar variants
- Variants in NOP56
- Penetrance
- None
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Amyotrophic lateral sclerosis/motor neuron disease
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary neuropathy
History Filter Activity
26 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
26 Feb 2018, Gel status: 2
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for NOP56 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Feb 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NOP56 were set to Spinocerebellar ataxia 36, 614153
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)NOP56 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)NOP56 was created by Ellen McDonagh