Dystonia - complex
Gene: GRNEnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dystonia is a reported feature of the phenotype
Sources: Expert listCreated: 30 Dec 2019, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: grn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: grn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GRN was added gene: GRN was added to Dystonia - complex_RMH. Sources: Expert list Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRN were set to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM#607485 Review for gene: GRN was set to GREEN