Amyotrophic lateral sclerosis/motor neuron disease
Gene: GRN
GRN (granulin precursor)
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000030582
EnsemblGeneIds (GRCh37): ENSG00000030582
OMIM: 138945, Gene2Phenotype
GRN is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: May be a disease-modifying genes - see PMID: 24488689.Created: 15 Jun 2016, 2:21 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 138945
- Clinvar variants
- Variants in GRN
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Neuronal ceroid lipofuscinosis
- Structural eye disease
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- Retinal disorders
- Glaucoma (developmental)
- Amyotrophic lateral sclerosis/motor neuron disease
History Filter Activity
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
15 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Aug 2015, Gel status: 0
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
18 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GRN was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
18 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GRN was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Expert