Early-onset Parkinson disease
Gene: GRNEnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
FTLD-TDP is clinically characterized by frontotemporal dementia, which shows variable phenotypic expression but most commonly presents with social, behavioural, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia'. Some individuals may present with a clinical diagnosis of Alzheimer disease or Parkinson disease, which are part of the phenotypic spectrum of this disorder.Created: 22 Sep 2020, 11:08 p.m. | Last Modified: 22 Sep 2020, 11:08 p.m.
Panel Version: 0.63
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GRN were changed from to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, MIM# 607485
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GRN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GRN was added gene: GRN was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: GRN was set to Unknown