Ataxia - adult onset
Gene: NOL3
NOL3 (nucleolar protein 3)
EnsemblGeneIds (GRCh38): ENSG00000140939
EnsemblGeneIds (GRCh37): ENSG00000140939
OMIM: 605235, Gene2Phenotype
NOL3 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000140939
EnsemblGeneIds (GRCh37): ENSG00000140939
OMIM: 605235, Gene2Phenotype
NOL3 is in 3 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
A single large Canadian Mennonite family with familial cortical myoclonus, 4 four members with mild late-onset ataxia reported in 2012. No other reports associated with ataxia since.Created: 17 Apr 2020, 3:11 a.m. | Last Modified: 17 Apr 2020, 3:11 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myoclonus, familial, 1 MIM#614937
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Myoclonus, familial cortical
- OMIM
- 605235
- Clinvar variants
- Variants in NOL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
17 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nol3 has been classified as Red List (Low Evidence).
17 Apr 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nol3 has been classified as Red List (Low Evidence).
19 Dec 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NOL3 was added gene: NOL3 was added to Ataxia - adult onset_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: NOL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOL3 were set to 22926851 Phenotypes for gene: NOL3 were set to Myoclonus, familial cortical