Dystonia, chorea or related movement disorder, adult onset
Gene: GRNEnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, adult onset
- Neuronal ceroid lipofuscinosis
- Hereditary ataxia, adult onset
- Intellectual disability
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Likely inborn error of metabolism
- Structural eye disease
- Amyotrophic lateral sclerosis/motor neuron disease
- Retinal disorders
- Glaucoma (developmental)
- Arthrogryposis
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GRN were changed from Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions; clinical presentation suggestive of cortico-basal/PSP syndrome to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GRN.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to GRN.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GRN was added gene: GRN was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRN were set to 20301545; 17923627 Phenotypes for gene: GRN were set to Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions; clinical presentation suggestive of cortico-basal/PSP syndrome