Hereditary neuropathy or pain disorder
Gene: NOP56EnsemblGeneIds (GRCh38): ENSG00000101361
EnsemblGeneIds (GRCh37): ENSG00000101361
OMIM: 614154, Gene2Phenotype
NOP56 is in 10 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Added to this panel by Alexander Rossor (UCL Institute of Neurology). Good evidence but mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs and so rating the gene entity as Red. Added STR entity instead.Created: 31 Oct 2024, 11:26 a.m. | Last Modified: 31 Oct 2024, 11:26 a.m.
Panel Version: 6.9
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spinocerebellar ataxia 36, OMIM:614153
- Tags
- OMIM
- 614154
- Clinvar variants
- Variants in NOP56
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
- Intellectual disability
- 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
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: nop56 has been classified as Red List (Low Evidence).
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.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NOP56 were changed from ataxia; motor neuropathy to Spinocerebellar ataxia 36, OMIM:614153
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: NOP56 was added gene: NOP56 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOP56 were set to 22492559: 22744658: 21683323 Phenotypes for gene: NOP56 were set to ataxia; motor neuropathy Penetrance for gene: NOP56 were set to Complete Review for gene: NOP56 was set to GREEN