Hereditary ataxia with onset in adulthood
Gene: NOP56EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 groupCreated: 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)
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
-
- Spinocerebellar ataxia 36, OMIM:614153
- Tags
- 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Hereditary ataxia
- Amyotrophic lateral sclerosis/motor neuron disease
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOP56 were changed from Spinocerebellarataxia36,614153 to Spinocerebellar ataxia 36, OMIM:614153
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: nop56 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to NOP56.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NOP56.
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)
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
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.
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