Regression
Gene: NOL3EnsemblGeneIds (GRCh38): ENSG00000140939
EnsemblGeneIds (GRCh37): ENSG00000140939
OMIM: 605235, Gene2Phenotype
NOL3 is in 3 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
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: 23 Mar 2022, 10:14 p.m. | Last Modified: 23 Mar 2022, 10:14 p.m.
Panel Version: 0.449
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Myoclonus, familial, 1 - MIM#614937
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Myoclonus, familial, 1 - MIM#614937
- OMIM
- 605235
- Clinvar variants
- Variants in NOL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nol3 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 - MIM#614937
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NOL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NOL3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nol3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NOL3 was added gene: NOL3 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOL3 was set to Unknown