Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: GRNEnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Eligibility statement prior genetic testing
- Expert
- Phenotypes
-
- clinical presentation suggestive of cortico-basal/PSP syndrome
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Neuronal ceroid lipofuscinosis
- Adult onset neurodegenerative disorder
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Retinal disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Glaucoma (developmental)
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)GRN was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)GRN was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert